CINXE.COM

<!DOCTYPE html> <html lang="en-US"> <head > <meta charset="UTF-8" /> <meta name="viewport" content="width=device-width, initial-scale=1" /> <meta name='robots' content='index, follow, max-image-preview:large, max-snippet:-1, max-video-preview:-1' />  <title>Biobanks, Phenotypes and Population Variation in Complex Trait Genetics</title> <meta name="description" content="Professor Mark McCarthy outlines how the intersection of biobanks, new study designs and technological advances improve our understanding of complex trait genetics." /> <link rel="canonical" href="https://www.thermofisher.com/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/" /> <meta property="og:locale" content="en_US" /> <meta property="og:type" content="article" /> <meta property="og:title" content="Biobanks, Phenotypes and Population Variation: Revolution or Evolution in Complex Trait Genetics?" /> <meta property="og:description" content="Professor Mark McCarthy outlines how the intersection of biobanks, new study designs and technological advances improve our understanding of complex trait genetics." /> <meta property="og:url" content="https://www.thermofisher.com/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/" /> <meta property="og:site_name" content="Behind the Bench" /> <meta property="article:publisher" content="https://www.facebook.com/thermofisher" /> <meta property="article:published_time" content="2019-04-04T06:03:15+00:00" /> <meta property="article:modified_time" content="2021-04-16T10:23:28+00:00" /> <meta property="og:image" content="https://www.thermofisher.com/blog/behindthebench/wp-content/uploads/sites/9/2019/04/col18594-globalresearchresource.jpg" /> <meta property="og:image:width" content="858" /> <meta property="og:image:height" content="1284" /> <meta property="og:image:type" content="image/jpeg" /> <meta name="author" content="Behind The Bench Staff" /> <meta name="twitter:card" content="summary_large_image" /> <meta name="twitter:creator" content="@thermofisher" /> <meta name="twitter:site" content="@thermofisher" /> <meta name="twitter:label1" content="Written by" /> <meta name="twitter:data1" content="Behind The Bench Staff" /> <meta name="twitter:label2" content="Est. reading time" /> <meta name="twitter:data2" content="20 minutes" /> <script type="application/ld+json" class="yoast-schema-graph">{"@context":"https://schema.org","@graph":[{"@type":"WebPage","@id":"https://www.thermofisher.com/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/","url":"https://www.thermofisher.com/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/","name":"Biobanks, Phenotypes and Population Variation in Complex Trait Genetics","isPartOf":{"@id":"https://www.thermofisher.com/blog/behindthebench/#website"},"primaryImageOfPage":{"@id":"https://www.thermofisher.com/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/#primaryimage"},"image":{"@id":"https://www.thermofisher.com/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/#primaryimage"},"thumbnailUrl":"https://www.thermofisher.com/blog/behindthebench/wp-content/uploads/sites/9/2019/04/col18594-globalresearchresource.jpg","datePublished":"2019-04-04T06:03:15+00:00","dateModified":"2021-04-16T10:23:28+00:00","author":{"@id":"https://www.thermofisher.com/blog/behindthebench/#/schema/person/9bbb2d67616274d3d4a21a584f7f4a0c"},"description":"Professor Mark McCarthy outlines how the intersection of biobanks, new study designs and technological advances improve our understanding of complex trait genetics.","breadcrumb":{"@id":"https://www.thermofisher.com/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https://www.thermofisher.com/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https://www.thermofisher.com/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/#primaryimage","url":"https://www.thermofisher.com/blog/behindthebench/wp-content/uploads/sites/9/2019/04/col18594-globalresearchresource.jpg","contentUrl":"https://www.thermofisher.com/blog/behindthebench/wp-content/uploads/sites/9/2019/04/col18594-globalresearchresource.jpg","width":858,"height":1284,"caption":"The interior of UK Biobank, with many stored samples on each wall"},{"@type":"BreadcrumbList","@id":"https://www.thermofisher.com/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https://www.thermofisher.com/blog/behindthebench/"},{"@type":"ListItem","position":2,"name":"Biobanks, Phenotypes and Population Variation: Revolution or Evolution in Complex Trait Genetics?"}]},{"@type":"WebSite","@id":"https://www.thermofisher.com/blog/behindthebench/#website","url":"https://www.thermofisher.com/blog/behindthebench/","name":"Behind the Bench","description":"","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https://www.thermofisher.com/blog/behindthebench/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Person","@id":"https://www.thermofisher.com/blog/behindthebench/#/schema/person/9bbb2d67616274d3d4a21a584f7f4a0c","name":"Behind The Bench Staff","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https://www.thermofisher.com/blog/behindthebench/#/schema/person/image/","url":"https://secure.gravatar.com/avatar/d6e5815e57520094d932400e2af233b9?s=96&d=mm&r=g","contentUrl":"https://secure.gravatar.com/avatar/d6e5815e57520094d932400e2af233b9?s=96&d=mm&r=g","caption":"Behind The Bench Staff"},"url":"https://www.thermofisher.com/blog/author/behind-the-bench-staff/"}]}</script>  <link rel='dns-prefetch' href='//www.thermofisher.com' /> <link rel='dns-prefetch' href='//use.fontawesome.com' /> <link rel="alternate" type="application/rss+xml" title="Behind the Bench » Feed" href="https://www.thermofisher.com/blog/behindthebench/feed/" /> <link rel="alternate" type="application/rss+xml" title="Behind the Bench » Comments Feed" href="https://www.thermofisher.com/blog/behindthebench/comments/feed/" /> <link rel="alternate" type="application/rss+xml" title="Behind the Bench » Biobanks, Phenotypes and Population Variation: Revolution or Evolution in Complex Trait Genetics? Comments Feed" href="https://www.thermofisher.com/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/feed/" />  <script src="https://cdn.optimizely.com/js/8156647427.js"></script>  <script> (function(h,o,t,j,a,r){ h.hj=h.hj||function(){(h.hj.q=h.hj.q||[]).push(arguments)}; h._hjSettings={hjid:373708,hjsv:5}; a=o.getElementsByTagName('head')[0]; r=o.createElement('script');r.async=1; r.src=t+h._hjSettings.hjid+j+h._hjSettings.hjsv; a.appendChild(r); })(window,document,'//static.hotjar.com/c/hotjar-','.js?sv='); </script>  <script src="//www.googletagmanager.com/gtag/js?id=G-K4QTN4KM25" data-cfasync="false" data-wpfc-render="false" type="text/javascript" async></script> <script data-cfasync="false" data-wpfc-render="false" type="text/javascript"> var mi_version = '9.2.0'; var mi_track_user = true; var mi_no_track_reason = ''; var MonsterInsightsDefaultLocations = {"page_location":"https:\/\/admin.acceleratingscience.com\/behindthebench\/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics\/"}; if ( typeof MonsterInsightsPrivacyGuardFilter === 'function' ) { var MonsterInsightsLocations = (typeof MonsterInsightsExcludeQuery === 'object') ? MonsterInsightsPrivacyGuardFilter( MonsterInsightsExcludeQuery ) : MonsterInsightsPrivacyGuardFilter( MonsterInsightsDefaultLocations ); } else { var MonsterInsightsLocations = (typeof MonsterInsightsExcludeQuery === 'object') ? MonsterInsightsExcludeQuery : MonsterInsightsDefaultLocations; } var disableStrs = [ 'ga-disable-G-K4QTN4KM25', ]; /* Function to detect opted out users */ function __gtagTrackerIsOptedOut() { for (var index = 0; index < disableStrs.length; index++) { if (document.cookie.indexOf(disableStrs[index] + '=true') > -1) { return true; } } return false; } /* Disable tracking if the opt-out cookie exists. */ if (__gtagTrackerIsOptedOut()) { for (var index = 0; index < disableStrs.length; index++) { window[disableStrs[index]] = true; } } /* Opt-out function */ function __gtagTrackerOptout() { for (var index = 0; index < disableStrs.length; index++) { document.cookie = disableStrs[index] + '=true; expires=Thu, 31 Dec 2099 23:59:59 UTC; path=/'; window[disableStrs[index]] = true; } } if ('undefined' === typeof gaOptout) { function gaOptout() { __gtagTrackerOptout(); } } window.dataLayer = window.dataLayer || []; window.MonsterInsightsDualTracker = { helpers: {}, trackers: {}, }; if (mi_track_user) { function __gtagDataLayer() { dataLayer.push(arguments); } function __gtagTracker(type, name, parameters) { if (!parameters) { parameters = {}; } if (parameters.send_to) { __gtagDataLayer.apply(null, arguments); return; } if (type === 'event') { parameters.send_to = monsterinsights_frontend.v4_id; var hookName = name; if (typeof parameters['event_category'] !== 'undefined') { hookName = parameters['event_category'] + ':' + name; } if (typeof MonsterInsightsDualTracker.trackers[hookName] !== 'undefined') { MonsterInsightsDualTracker.trackers[hookName](parameters); } else { __gtagDataLayer('event', name, parameters); } } else { __gtagDataLayer.apply(null, arguments); } } __gtagTracker('js', new Date()); __gtagTracker('set', { 'developer_id.dZGIzZG': true, }); if ( MonsterInsightsLocations.page_location ) { __gtagTracker('set', MonsterInsightsLocations); } __gtagTracker('config', 'G-K4QTN4KM25', {"use_amp_client_id":"true","forceSSL":"true","author":"user-120","category":"Precision Medicine","published_at":"2019-04-04T06:03:15+00:00","tags":"biobank,Genotyping,predictive genomics"} ); window.gtag = __gtagTracker; (function () { /* https://developers.google.com/analytics/devguides/collection/analyticsjs/ */ /* ga and __gaTracker compatibility shim. */ var noopfn = function () { return null; }; var newtracker = function () { return new Tracker(); }; var Tracker = function () { return null; }; var p = Tracker.prototype; p.get = noopfn; p.set = noopfn; p.send = function () { var args = Array.prototype.slice.call(arguments); args.unshift('send'); __gaTracker.apply(null, args); }; var __gaTracker = function () { var len = arguments.length; if (len === 0) { return; } var f = arguments[len - 1]; if (typeof f !== 'object' || f === null || typeof f.hitCallback !== 'function') { if ('send' === arguments[0]) { var hitConverted, hitObject = false, action; if ('event' === arguments[1]) { if ('undefined' !== typeof arguments[3]) { hitObject = { 'eventAction': arguments[3], 'eventCategory': arguments[2], 'eventLabel': arguments[4], 'value': arguments[5] ? arguments[5] : 1, } } } if ('pageview' === arguments[1]) { if ('undefined' !== typeof arguments[2]) { hitObject = { 'eventAction': 'page_view', 'page_path': arguments[2], } } } if (typeof arguments[2] === 'object') { hitObject = arguments[2]; } if (typeof arguments[5] === 'object') { Object.assign(hitObject, arguments[5]); } if ('undefined' !== typeof arguments[1].hitType) { hitObject = arguments[1]; if ('pageview' === hitObject.hitType) { hitObject.eventAction = 'page_view'; } } if (hitObject) { action = 'timing' === arguments[1].hitType ? 'timing_complete' : hitObject.eventAction; hitConverted = mapArgs(hitObject); __gtagTracker('event', action, hitConverted); } } return; } function mapArgs(args) { var arg, hit = {}; var gaMap = { 'eventCategory': 'event_category', 'eventAction': 'event_action', 'eventLabel': 'event_label', 'eventValue': 'event_value', 'nonInteraction': 'non_interaction', 'timingCategory': 'event_category', 'timingVar': 'name', 'timingValue': 'value', 'timingLabel': 'event_label', 'page': 'page_path', 'location': 'page_location', 'title': 'page_title', 'referrer' : 'page_referrer', }; for (arg in args) { if (!(!args.hasOwnProperty(arg) || !gaMap.hasOwnProperty(arg))) { hit[gaMap[arg]] = args[arg]; } else { hit[arg] = args[arg]; } } return hit; } try { f.hitCallback(); } catch (ex) { } }; __gaTracker.create = newtracker; __gaTracker.getByName = newtracker; __gaTracker.getAll = function () { return []; }; __gaTracker.remove = noopfn; __gaTracker.loaded = true; window['__gaTracker'] = __gaTracker; })(); } else { console.log(""); (function () { function __gtagTracker() { return null; } window['__gtagTracker'] = __gtagTracker; window['gtag'] = __gtagTracker; })(); } </script>  <link rel='stylesheet' id='jetpack_related-posts-css' href='https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/jetpack/modules/related-posts/related-posts.css?ver=20240116' type='text/css' media='all' /> <link rel='stylesheet' id='accelerating-science-blogs-css' href='https://www.thermofisher.com/blog/behindthebench/wp-content/themes/accelerating-science-blogs/style.css?ver=1.2.9.3' type='text/css' media='all' /> <link rel='stylesheet' id='wp-block-library-css' href='https://www.thermofisher.com/blog//wp-includes/css/dist/block-library/style.min.css?ver=6.6.1' type='text/css' media='all' /> <link rel='stylesheet' id='mediaelement-css' href='https://www.thermofisher.com/blog//wp-includes/js/mediaelement/mediaelementplayer-legacy.min.css?ver=4.2.17' type='text/css' media='all' /> <link rel='stylesheet' id='wp-mediaelement-css' href='https://www.thermofisher.com/blog//wp-includes/js/mediaelement/wp-mediaelement.min.css?ver=6.6.1' type='text/css' media='all' /> <style id='jetpack-sharing-buttons-style-inline-css' type='text/css'> .jetpack-sharing-buttons__services-list{display:flex;flex-direction:row;flex-wrap:wrap;gap:0;list-style-type:none;margin:5px;padding:0}.jetpack-sharing-buttons__services-list.has-small-icon-size{font-size:12px}.jetpack-sharing-buttons__services-list.has-normal-icon-size{font-size:16px}.jetpack-sharing-buttons__services-list.has-large-icon-size{font-size:24px}.jetpack-sharing-buttons__services-list.has-huge-icon-size{font-size:36px}@media print{.jetpack-sharing-buttons__services-list{display:none!important}}.editor-styles-wrapper .wp-block-jetpack-sharing-buttons{gap:0;padding-inline-start:0}ul.jetpack-sharing-buttons__services-list.has-background{padding:1.25em 2.375em} </style> <style id='classic-theme-styles-inline-css' type='text/css'> /*! This file is auto-generated */ .wp-block-button__link{color:#fff;background-color:#32373c;border-radius:9999px;box-shadow:none;text-decoration:none;padding:calc(.667em + 2px) calc(1.333em + 2px);font-size:1.125em}.wp-block-file__button{background:#32373c;color:#fff;text-decoration:none} </style> <style id='global-styles-inline-css' type='text/css'> :root{--wp--preset--aspect-ratio--square: 1;--wp--preset--aspect-ratio--4-3: 4/3;--wp--preset--aspect-ratio--3-4: 3/4;--wp--preset--aspect-ratio--3-2: 3/2;--wp--preset--aspect-ratio--2-3: 2/3;--wp--preset--aspect-ratio--16-9: 16/9;--wp--preset--aspect-ratio--9-16: 9/16;--wp--preset--color--black: #000000;--wp--preset--color--cyan-bluish-gray: #abb8c3;--wp--preset--color--white: #ffffff;--wp--preset--color--pale-pink: #f78da7;--wp--preset--color--vivid-red: #cf2e2e;--wp--preset--color--luminous-vivid-orange: #ff6900;--wp--preset--color--luminous-vivid-amber: #fcb900;--wp--preset--color--light-green-cyan: #7bdcb5;--wp--preset--color--vivid-green-cyan: #00d084;--wp--preset--color--pale-cyan-blue: #8ed1fc;--wp--preset--color--vivid-cyan-blue: #0693e3;--wp--preset--color--vivid-purple: #9b51e0;--wp--preset--gradient--vivid-cyan-blue-to-vivid-purple: linear-gradient(135deg,rgba(6,147,227,1) 0%,rgb(155,81,224) 100%);--wp--preset--gradient--light-green-cyan-to-vivid-green-cyan: linear-gradient(135deg,rgb(122,220,180) 0%,rgb(0,208,130) 100%);--wp--preset--gradient--luminous-vivid-amber-to-luminous-vivid-orange: linear-gradient(135deg,rgba(252,185,0,1) 0%,rgba(255,105,0,1) 100%);--wp--preset--gradient--luminous-vivid-orange-to-vivid-red: linear-gradient(135deg,rgba(255,105,0,1) 0%,rgb(207,46,46) 100%);--wp--preset--gradient--very-light-gray-to-cyan-bluish-gray: linear-gradient(135deg,rgb(238,238,238) 0%,rgb(169,184,195) 100%);--wp--preset--gradient--cool-to-warm-spectrum: linear-gradient(135deg,rgb(74,234,220) 0%,rgb(151,120,209) 20%,rgb(207,42,186) 40%,rgb(238,44,130) 60%,rgb(251,105,98) 80%,rgb(254,248,76) 100%);--wp--preset--gradient--blush-light-purple: linear-gradient(135deg,rgb(255,206,236) 0%,rgb(152,150,240) 100%);--wp--preset--gradient--blush-bordeaux: linear-gradient(135deg,rgb(254,205,165) 0%,rgb(254,45,45) 50%,rgb(107,0,62) 100%);--wp--preset--gradient--luminous-dusk: linear-gradient(135deg,rgb(255,203,112) 0%,rgb(199,81,192) 50%,rgb(65,88,208) 100%);--wp--preset--gradient--pale-ocean: linear-gradient(135deg,rgb(255,245,203) 0%,rgb(182,227,212) 50%,rgb(51,167,181) 100%);--wp--preset--gradient--electric-grass: linear-gradient(135deg,rgb(202,248,128) 0%,rgb(113,206,126) 100%);--wp--preset--gradient--midnight: linear-gradient(135deg,rgb(2,3,129) 0%,rgb(40,116,252) 100%);--wp--preset--font-size--small: 13px;--wp--preset--font-size--medium: 20px;--wp--preset--font-size--large: 36px;--wp--preset--font-size--x-large: 42px;--wp--preset--spacing--20: 0.44rem;--wp--preset--spacing--30: 0.67rem;--wp--preset--spacing--40: 1rem;--wp--preset--spacing--50: 1.5rem;--wp--preset--spacing--60: 2.25rem;--wp--preset--spacing--70: 3.38rem;--wp--preset--spacing--80: 5.06rem;--wp--preset--shadow--natural: 6px 6px 9px rgba(0, 0, 0, 0.2);--wp--preset--shadow--deep: 12px 12px 50px rgba(0, 0, 0, 0.4);--wp--preset--shadow--sharp: 6px 6px 0px rgba(0, 0, 0, 0.2);--wp--preset--shadow--outlined: 6px 6px 0px -3px rgba(255, 255, 255, 1), 6px 6px rgba(0, 0, 0, 1);--wp--preset--shadow--crisp: 6px 6px 0px rgba(0, 0, 0, 1);}:where(.is-layout-flex){gap: 0.5em;}:where(.is-layout-grid){gap: 0.5em;}body .is-layout-flex{display: flex;}.is-layout-flex{flex-wrap: wrap;align-items: center;}.is-layout-flex > :is(*, div){margin: 0;}body .is-layout-grid{display: grid;}.is-layout-grid > :is(*, div){margin: 0;}:where(.wp-block-columns.is-layout-flex){gap: 2em;}:where(.wp-block-columns.is-layout-grid){gap: 2em;}:where(.wp-block-post-template.is-layout-flex){gap: 1.25em;}:where(.wp-block-post-template.is-layout-grid){gap: 1.25em;}.has-black-color{color: var(--wp--preset--color--black) !important;}.has-cyan-bluish-gray-color{color: var(--wp--preset--color--cyan-bluish-gray) !important;}.has-white-color{color: var(--wp--preset--color--white) !important;}.has-pale-pink-color{color: var(--wp--preset--color--pale-pink) !important;}.has-vivid-red-color{color: var(--wp--preset--color--vivid-red) !important;}.has-luminous-vivid-orange-color{color: var(--wp--preset--color--luminous-vivid-orange) !important;}.has-luminous-vivid-amber-color{color: var(--wp--preset--color--luminous-vivid-amber) !important;}.has-light-green-cyan-color{color: var(--wp--preset--color--light-green-cyan) !important;}.has-vivid-green-cyan-color{color: var(--wp--preset--color--vivid-green-cyan) !important;}.has-pale-cyan-blue-color{color: var(--wp--preset--color--pale-cyan-blue) !important;}.has-vivid-cyan-blue-color{color: var(--wp--preset--color--vivid-cyan-blue) !important;}.has-vivid-purple-color{color: var(--wp--preset--color--vivid-purple) !important;}.has-black-background-color{background-color: var(--wp--preset--color--black) !important;}.has-cyan-bluish-gray-background-color{background-color: var(--wp--preset--color--cyan-bluish-gray) !important;}.has-white-background-color{background-color: var(--wp--preset--color--white) !important;}.has-pale-pink-background-color{background-color: var(--wp--preset--color--pale-pink) !important;}.has-vivid-red-background-color{background-color: var(--wp--preset--color--vivid-red) !important;}.has-luminous-vivid-orange-background-color{background-color: var(--wp--preset--color--luminous-vivid-orange) !important;}.has-luminous-vivid-amber-background-color{background-color: var(--wp--preset--color--luminous-vivid-amber) !important;}.has-light-green-cyan-background-color{background-color: var(--wp--preset--color--light-green-cyan) !important;}.has-vivid-green-cyan-background-color{background-color: var(--wp--preset--color--vivid-green-cyan) !important;}.has-pale-cyan-blue-background-color{background-color: var(--wp--preset--color--pale-cyan-blue) !important;}.has-vivid-cyan-blue-background-color{background-color: var(--wp--preset--color--vivid-cyan-blue) !important;}.has-vivid-purple-background-color{background-color: var(--wp--preset--color--vivid-purple) !important;}.has-black-border-color{border-color: var(--wp--preset--color--black) !important;}.has-cyan-bluish-gray-border-color{border-color: var(--wp--preset--color--cyan-bluish-gray) !important;}.has-white-border-color{border-color: var(--wp--preset--color--white) !important;}.has-pale-pink-border-color{border-color: var(--wp--preset--color--pale-pink) !important;}.has-vivid-red-border-color{border-color: var(--wp--preset--color--vivid-red) !important;}.has-luminous-vivid-orange-border-color{border-color: var(--wp--preset--color--luminous-vivid-orange) !important;}.has-luminous-vivid-amber-border-color{border-color: var(--wp--preset--color--luminous-vivid-amber) !important;}.has-light-green-cyan-border-color{border-color: var(--wp--preset--color--light-green-cyan) !important;}.has-vivid-green-cyan-border-color{border-color: var(--wp--preset--color--vivid-green-cyan) !important;}.has-pale-cyan-blue-border-color{border-color: var(--wp--preset--color--pale-cyan-blue) !important;}.has-vivid-cyan-blue-border-color{border-color: var(--wp--preset--color--vivid-cyan-blue) !important;}.has-vivid-purple-border-color{border-color: var(--wp--preset--color--vivid-purple) !important;}.has-vivid-cyan-blue-to-vivid-purple-gradient-background{background: var(--wp--preset--gradient--vivid-cyan-blue-to-vivid-purple) !important;}.has-light-green-cyan-to-vivid-green-cyan-gradient-background{background: var(--wp--preset--gradient--light-green-cyan-to-vivid-green-cyan) !important;}.has-luminous-vivid-amber-to-luminous-vivid-orange-gradient-background{background: var(--wp--preset--gradient--luminous-vivid-amber-to-luminous-vivid-orange) !important;}.has-luminous-vivid-orange-to-vivid-red-gradient-background{background: var(--wp--preset--gradient--luminous-vivid-orange-to-vivid-red) !important;}.has-very-light-gray-to-cyan-bluish-gray-gradient-background{background: var(--wp--preset--gradient--very-light-gray-to-cyan-bluish-gray) !important;}.has-cool-to-warm-spectrum-gradient-background{background: var(--wp--preset--gradient--cool-to-warm-spectrum) !important;}.has-blush-light-purple-gradient-background{background: var(--wp--preset--gradient--blush-light-purple) !important;}.has-blush-bordeaux-gradient-background{background: var(--wp--preset--gradient--blush-bordeaux) !important;}.has-luminous-dusk-gradient-background{background: var(--wp--preset--gradient--luminous-dusk) !important;}.has-pale-ocean-gradient-background{background: var(--wp--preset--gradient--pale-ocean) !important;}.has-electric-grass-gradient-background{background: var(--wp--preset--gradient--electric-grass) !important;}.has-midnight-gradient-background{background: var(--wp--preset--gradient--midnight) !important;}.has-small-font-size{font-size: var(--wp--preset--font-size--small) !important;}.has-medium-font-size{font-size: var(--wp--preset--font-size--medium) !important;}.has-large-font-size{font-size: var(--wp--preset--font-size--large) !important;}.has-x-large-font-size{font-size: var(--wp--preset--font-size--x-large) !important;} :where(.wp-block-post-template.is-layout-flex){gap: 1.25em;}:where(.wp-block-post-template.is-layout-grid){gap: 1.25em;} :where(.wp-block-columns.is-layout-flex){gap: 2em;}:where(.wp-block-columns.is-layout-grid){gap: 2em;} :root :where(.wp-block-pullquote){font-size: 1.5em;line-height: 1.6;} </style> <link rel='stylesheet' id='mashsb-styles-css' href='https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/mashsharer/assets/css/mashsb.min.css?ver=4.0.47' type='text/css' media='all' /> <style id='mashsb-styles-inline-css' type='text/css'> .mashsb-count {color:#555759;}[class^="mashicon-"] .text, [class*=" mashicon-"] .text{ text-indent: -9999px !important; line-height: 0px; display: block; } [class^="mashicon-"] .text:after, [class*=" mashicon-"] .text:after { content: "" !important; text-indent: 0; font-size:13px; display: block !important; } [class^="mashicon-"], [class*=" mashicon-"] { width:25%; text-align: center !important; } [class^="mashicon-"] .icon:before, [class*=" mashicon-"] .icon:before { float:none; margin-right: 0; } .mashsb-buttons a{ margin-right: 3px; margin-bottom:3px; min-width: 0; width: 41px; } .onoffswitch, .onoffswitch-inner:before, .onoffswitch-inner:after .onoffswitch2, .onoffswitch2-inner:before, .onoffswitch2-inner:after { margin-right: 0px; width: 41px; line-height: 41px; } </style> <link rel='stylesheet' id='mashnet-styles-css' href='https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/mashshare-networks/assets/css/mashnet.min.css?ver=2.5.3' type='text/css' media='all' /> <link rel='stylesheet' id='mashsas-styles-css' href='https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/mashshare-select-and-share/assets/css/mashsas.min.css?ver=1.0.5' type='text/css' media='all' /> <link rel='stylesheet' id='gforms_reset_css-css' href='https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/legacy/css/formreset.min.css?ver=2.8.17' type='text/css' media='all' /> <link rel='stylesheet' id='gforms_formsmain_css-css' href='https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/legacy/css/formsmain.min.css?ver=2.8.17' type='text/css' media='all' /> <link rel='stylesheet' id='gforms_ready_class_css-css' href='https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/legacy/css/readyclass.min.css?ver=2.8.17' type='text/css' media='all' /> <link rel='stylesheet' id='gforms_browsers_css-css' href='https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/legacy/css/browsers.min.css?ver=2.8.17' type='text/css' media='all' /> <link rel='stylesheet' id='globals-css' href='https://www.thermofisher.com/blog/behindthebench/wp-content/themes/accelerating-science-blogs/global-style.css?ver=1.2.9.3' type='text/css' media='all' /> <link rel='stylesheet' id='bfa-font-awesome-css' href='https://use.fontawesome.com/releases/v5.15.4/css/all.css?ver=2.0.3' type='text/css' media='all' /> <link rel='stylesheet' id='bfa-font-awesome-v4-shim-css' href='https://use.fontawesome.com/releases/v5.15.4/css/v4-shims.css?ver=2.0.3' type='text/css' media='all' /> <style id='bfa-font-awesome-v4-shim-inline-css' type='text/css'> @font-face { font-family: 'FontAwesome'; src: url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-brands-400.eot'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-brands-400.eot?#iefix') format('embedded-opentype'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-brands-400.woff2') format('woff2'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-brands-400.woff') format('woff'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-brands-400.ttf') format('truetype'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-brands-400.svg#fontawesome') format('svg'); } @font-face { font-family: 'FontAwesome'; src: url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-solid-900.eot'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-solid-900.eot?#iefix') format('embedded-opentype'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-solid-900.woff2') format('woff2'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-solid-900.woff') format('woff'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-solid-900.ttf') format('truetype'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-solid-900.svg#fontawesome') format('svg'); } @font-face { font-family: 'FontAwesome'; src: url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-regular-400.eot'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-regular-400.eot?#iefix') format('embedded-opentype'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-regular-400.woff2') format('woff2'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-regular-400.woff') format('woff'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-regular-400.ttf') format('truetype'), url('https://use.fontawesome.com/releases/v5.15.4/webfonts/fa-regular-400.svg#fontawesome') format('svg'); unicode-range: U+F004-F005,U+F007,U+F017,U+F022,U+F024,U+F02E,U+F03E,U+F044,U+F057-F059,U+F06E,U+F070,U+F075,U+F07B-F07C,U+F080,U+F086,U+F089,U+F094,U+F09D,U+F0A0,U+F0A4-F0A7,U+F0C5,U+F0C7-F0C8,U+F0E0,U+F0EB,U+F0F3,U+F0F8,U+F0FE,U+F111,U+F118-F11A,U+F11C,U+F133,U+F144,U+F146,U+F14A,U+F14D-F14E,U+F150-F152,U+F15B-F15C,U+F164-F165,U+F185-F186,U+F191-F192,U+F1AD,U+F1C1-F1C9,U+F1CD,U+F1D8,U+F1E3,U+F1EA,U+F1F6,U+F1F9,U+F20A,U+F247-F249,U+F24D,U+F254-F25B,U+F25D,U+F267,U+F271-F274,U+F279,U+F28B,U+F28D,U+F2B5-F2B6,U+F2B9,U+F2BB,U+F2BD,U+F2C1-F2C2,U+F2D0,U+F2D2,U+F2DC,U+F2ED,U+F328,U+F358-F35B,U+F3A5,U+F3D1,U+F410,U+F4AD; } </style> <link rel='stylesheet' id='boxzilla-css' href='https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/boxzilla/assets/css/styles.css?ver=3.3.1' type='text/css' media='all' /> <script type="text/javascript" id="jetpack_related-posts-js-extra"> /* <![CDATA[ */ var related_posts_js_options = {"post_heading":"h4"}; /* ]]> */ </script> <script type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/jetpack/_inc/build/related-posts/related-posts.min.js?ver=20240116" id="jetpack_related-posts-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/google-analytics-premium/assets/js/frontend-gtag.min.js?ver=9.2.0" id="monsterinsights-frontend-script-js" async="async" data-wp-strategy="async"></script> <script data-cfasync="false" data-wpfc-render="false" type="text/javascript" id='monsterinsights-frontend-script-js-extra'>/* <![CDATA[ */ var monsterinsights_frontend = {"js_events_tracking":"true","download_extensions":"doc,pdf,ppt,zip,xls,docx,pptx,xlsx","inbound_paths":"[]","home_url":"https:\/\/admin.acceleratingscience.com\/behindthebench","hash_tracking":"false","v4_id":"G-K4QTN4KM25"};/* ]]> */ </script> <script type="text/javascript" src="https://www.thermofisher.com/blog//wp-includes/js/jquery/jquery.min.js?ver=3.7.1" id="jquery-core-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog//wp-includes/js/jquery/jquery-migrate.min.js?ver=3.4.1" id="jquery-migrate-js"></script> <script type="text/javascript" id="mashsb-js-extra"> /* <![CDATA[ */ var mashsb = {"shares":"116","round_shares":"1","animate_shares":"0","dynamic_buttons":"0","share_url":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics\/","title":"Biobanks%2C+Phenotypes+and+Population+Variation%3A+Revolution+or+Evolution+in+Complex+Trait+Genetics%3F","image":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2019\/04\/col18594-globalresearchresource.jpg","desc":"The\u00a0Predictive Genomics\u00a0blog series provides perspectives on the use and impact of genetic risk screening & pharmacogenomics in clinical research. Predictive Genomics is powerful capability to study disease risk and understand drug response in order to \u2026","hashtag":"thermofisher","subscribe":"content","subscribe_url":"","activestatus":"1","singular":"1","twitter_popup":"1","refresh":"0","nonce":"c2e6b09adb","postid":"12296","servertime":"1732325226","ajaxurl":"https:\/\/www.thermofisher.com\/blog\/wp-admin\/admin-ajax.php"}; /* ]]> */ </script> <script type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/mashsharer/assets/js/mashsb.min.js?ver=4.0.47" id="mashsb-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/mashshare-google-analytics/assets/js/mashga.min.js?ver=1.0.9" id="mashga-js"></script> <script type="text/javascript" id="mashnet-js-extra"> /* <![CDATA[ */ var mashnet = {"body":"Check out this article I just read:","subject":"Check out this article from Accelerating Science","pinterest_select":"1","pinterest_image":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2019\/04\/col18594-globalresearchresource.jpg","pinterest_desc":"The\u00a0Predictive Genomics\u00a0blog series provides perspectives on the use and impact of genetic risk screening & pharmacogenomics in clinical research. Predictive Genomics is powerful capability to study disease risk and understand drug response in order to \u2026"}; /* ]]> */ </script> <script type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/mashshare-networks/assets/js/mashnet.min.js?ver=2.5.3" id="mashnet-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog//wp-includes/js/underscore.min.js?ver=1.13.4" id="underscore-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog//wp-includes/js/backbone.min.js?ver=1.5.0" id="backbone-js"></script> <script type="text/javascript" id="wp-api-js-js-extra"> /* <![CDATA[ */ var WP_API_Settings = {"root":"https:\/\/admin.acceleratingscience.com\/behindthebench","nonce":"8e838958fa"}; /* ]]> */ </script> <script type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/wp-search-live/public/assets/js/util--wp-api.js?ver=0.9" id="wp-api-js-js"></script> <script type="text/javascript" id="mashsas-js-extra"> /* <![CDATA[ */ var mashsas = {"minchars":"10","appid":"1603510369972799","facebook":"1","twitter":"1","mail":"1"}; /* ]]> */ </script> <script type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/mashshare-select-and-share/assets/js/mashsas.min.js?ver=1.0.5" id="mashsas-js"></script> <script type="text/javascript" defer='defer' src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/js/jquery.json.min.js?ver=2.8.17" id="gform_json-js"></script> <script type="text/javascript" id="gform_gravityforms-js-extra"> /* <![CDATA[ */ var gf_global = {"gf_currency_config":{"name":"U.S. Dollar","symbol_left":"$","symbol_right":"","symbol_padding":"","thousand_separator":",","decimal_separator":".","decimals":2,"code":"USD"},"base_url":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/plugins\/gravityforms","number_formats":[],"spinnerUrl":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/plugins\/gravityforms\/images\/spinner.svg","version_hash":"4a792b070322e711c2521ee9802c04ea","strings":{"newRowAdded":"New row added.","rowRemoved":"Row removed","formSaved":"The form has been saved. The content contains the link to return and complete the form."}}; var gf_global = {"gf_currency_config":{"name":"U.S. Dollar","symbol_left":"$","symbol_right":"","symbol_padding":"","thousand_separator":",","decimal_separator":".","decimals":2,"code":"USD"},"base_url":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/plugins\/gravityforms","number_formats":[],"spinnerUrl":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/plugins\/gravityforms\/images\/spinner.svg","version_hash":"4a792b070322e711c2521ee9802c04ea","strings":{"newRowAdded":"New row added.","rowRemoved":"Row removed","formSaved":"The form has been saved. The content contains the link to return and complete the form."}}; var gf_global = {"gf_currency_config":{"name":"U.S. Dollar","symbol_left":"$","symbol_right":"","symbol_padding":"","thousand_separator":",","decimal_separator":".","decimals":2,"code":"USD"},"base_url":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/plugins\/gravityforms","number_formats":[],"spinnerUrl":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/plugins\/gravityforms\/images\/spinner.svg","version_hash":"4a792b070322e711c2521ee9802c04ea","strings":{"newRowAdded":"New row added.","rowRemoved":"Row removed","formSaved":"The form has been saved. The content contains the link to return and complete the form."}}; var gf_global = {"gf_currency_config":{"name":"U.S. Dollar","symbol_left":"$","symbol_right":"","symbol_padding":"","thousand_separator":",","decimal_separator":".","decimals":2,"code":"USD"},"base_url":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/plugins\/gravityforms","number_formats":[],"spinnerUrl":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/plugins\/gravityforms\/images\/spinner.svg","version_hash":"4a792b070322e711c2521ee9802c04ea","strings":{"newRowAdded":"New row added.","rowRemoved":"Row removed","formSaved":"The form has been saved. The content contains the link to return and complete the form."}}; var gform_i18n = {"datepicker":{"days":{"monday":"Mo","tuesday":"Tu","wednesday":"We","thursday":"Th","friday":"Fr","saturday":"Sa","sunday":"Su"},"months":{"january":"January","february":"February","march":"March","april":"April","may":"May","june":"June","july":"July","august":"August","september":"September","october":"October","november":"November","december":"December"},"firstDay":1,"iconText":"Select date"}}; var gf_legacy_multi = {"1":"1","":"1"}; var gform_gravityforms = {"strings":{"invalid_file_extension":"This type of file is not allowed. Must be one of the following:","delete_file":"Delete this file","in_progress":"in progress","file_exceeds_limit":"File exceeds size limit","illegal_extension":"This type of file is not allowed.","max_reached":"Maximum number of files reached","unknown_error":"There was a problem while saving the file on the server","currently_uploading":"Please wait for the uploading to complete","cancel":"Cancel","cancel_upload":"Cancel this upload","cancelled":"Cancelled"},"vars":{"images_url":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/plugins\/gravityforms\/images"}}; /* ]]> */ </script> <script type="text/javascript" defer='defer' src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/js/gravityforms.min.js?ver=2.8.17" id="gform_gravityforms-js"></script> <script type="text/javascript" defer='defer' src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/js/chosen.jquery.min.js?ver=2.8.17" id="gform_chosen-js"></script> <script type="text/javascript" defer='defer' src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/assets/js/dist/utils.min.js?ver=50c7bea9c2320e16728e44ae9fde5f26" id="gform_gravityforms_utils-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/themes/accelerating-science-blogs/js/single-scripts.js?ver=1.2.9.3" id="single-scripts-js"></script> <link rel="https://api.w.org/" href="https://www.thermofisher.com/blog/behindthebench/wp-json/" /><link rel="alternate" title="JSON" type="application/json" href="https://www.thermofisher.com/blog/behindthebench/wp-json/wp/v2/posts/12296" /><link rel="EditURI" type="application/rsd+xml" title="RSD" href="https://www.thermofisher.com/blog/xmlrpc.php?rsd" /> <link rel='shortlink' href='https://www.thermofisher.com/blog/behindthebench/?p=12296' /> <link rel="alternate" title="oEmbed (JSON)" type="application/json+oembed" href="https://www.thermofisher.com/blog/behindthebench/wp-json/oembed/1.0/embed?url=https%3A%2F%2Fwww.thermofisher.com%2Fblog%2Fbehindthebench%2Fbiobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics%2F" /> <link rel="alternate" title="oEmbed (XML)" type="text/xml+oembed" href="https://www.thermofisher.com/blog/behindthebench/wp-json/oembed/1.0/embed?url=https%3A%2F%2Fwww.thermofisher.com%2Fblog%2Fbehindthebench%2Fbiobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics%2F&format=xml" /> <meta property="fb:pages" content="258357757657262" />  <link rel="icon" href="https://www.thermofisher.com/blog/behindthebench/wp-content/themes/accelerating-science-blogs/images/favicon.ico" />  <script async src="https://www.googletagmanager.com/gtag/js?id=UA-34877942-1"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'UA-34877942-1'); </script>  <script> !function(f,b,e,v,n,t,s){if(f.fbq)return;n=f.fbq=function(){n.callMethod? n.callMethod.apply(n,arguments):n.queue.push(arguments)};if(!f._fbq)f._fbq=n; n.push=n;n.loaded=!0;n.version='2.0';n.queue=[];t=b.createElement(e);t.async=!0; t.src=v;s=b.getElementsByTagName(e)[0];s.parentNode.insertBefore(t,s)}(window, document,'script','https://connect.facebook.net/en_US/fbevents.js'); fbq('init', '305572349637096'); fbq('track', "PageView");</script> <noscript><img height="1" width="1" style="display:none" src="https://www.facebook.com/tr?id=305572349637096&ev=PageView&noscript=1" /></noscript>   <script async src="https://www.googletagmanager.com/gtag/js?id=AW-1013120100"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'AW-1013120100'); </script>  <script> gtag('event', 'conversion', {'send_to': 'AW-1013120100/_RFLCLT6yqsBEOT4i-MD'}); </script> <script type="application/ld+json"> {"@context":"http:\/\/schema.org","@type":"BlogPosting","mainEntityofPage":{"@type":"WebPage","@id":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics\/"},"headline":"Biobanks, Phenotypes and Population Variation: Revolution or Evolution in Complex Trait Genetics?","datePublished":"04\/04\/2019","dateModified":"04\/04\/2019","publisher":{"@type":"Organization","name":"Thermo Fisher Scientific","URL":"https:\/\/www.thermofisher.com\/us\/en\/home.html","logo":{"@type":"ImageObject","url":"https:\/\/www.thermofisher.com\/content\/dam\/LifeTech\/Images\/Header\/logo-color.png"}},"image":{"@type":"ImageObject","url":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2019\/04\/col18594-globalresearchresource.jpg","width":858,"height":1284},"keywords":"biobank, Genotyping, predictive genomics, ","author":{"@type":"Person","name":"Behind The Bench Staff"}} </script> <script type="text/javascript" src="https://www.thermofisher.com/etc/designs/lifetech/clientlibs/digitaldata.js" defer="defer"></script> <script id="tagmanager" type="text/javascript" src='https://assets.adobedtm.com/launch-ENeecb77f1160a4928a492ff040f7110c7.min.js' defer="defer"></script> <script> (function($) { $(document).ready(function() { digitalData.setPageType('blog'); }) })(jQuery); </script> <style type="text/css" id="wp-custom-css"> /* Welcome to Custom CSS! To learn how this works, see http://wp.me/PEmnE-Bt */blockquote { width: 450px; color:#FFF; background: #7d7e7d; /* Old browsers */ background: -moz-linear-gradient(top, #7d7e7d 0%, #0e0e0e 100%); /* FF3.6+ */ background: -webkit-gradient(linear, left top, left bottom, color-stop(0%,#7d7e7d), color-stop(100%,#0e0e0e)); /* Chrome,Safari4+ */ background: -webkit-linear-gradient(top, #7d7e7d 0%,#0e0e0e 100%); /* Chrome10+,Safari5.1+ */ background: -o-linear-gradient(top, #7d7e7d 0%,#0e0e0e 100%); /* Opera 11.10+ */ background: -ms-linear-gradient(top, #7d7e7d 0%,#0e0e0e 100%); /* IE10+ */ background: linear-gradient(to bottom, #7d7e7d 0%,#0e0e0e 100%); /* W3C */ filter: progid:DXImageTransform.Microsoft.gradient( startColorstr=’#7d7e7d’, endColorstr=’#0e0e0e’,GradientType=0 ); /* IE6-9 */ border: 1px solid #ccc; border-radius: 6px; box-shadow: 1px 1px 1px #ccc; font-style: italic; } </style> </head> <body class="post-template-default single single-post postid-12296 single-format-standard header-image full-width-content genesis-breadcrumbs-visible"><div class="site-container"><header class="site-header"><div class="wrap"><div class="title-area"><p class="site-title"><a href="https://www.thermofisher.com/" title="Thermo Fisher Scientific">Thermo Fisher Scientific</a></p></div><div class="widget-area header-widget-area"><section id="nav_menu-2" class="widget widget_nav_menu"><div class="widget-wrap"><nav class="nav-header"><ul id="menu-main-menu" class="menu genesis-nav-menu"><li id="menu-item-15" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-has-children menu-item-15"><a><span >Categories</span></a> <ul class="sub-menu"> <li id="menu-item-22" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-22"><a href="https://www.thermofisher.com/blog/materials/"><span >Advancing Materials</span></a></li> <li id="menu-item-21" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-21"><a href="https://www.thermofisher.com/blog/mining/"><span >Advancing Mining</span></a></li> <li id="menu-item-17937" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-17937"><a href="https://www.thermofisher.com/blog/analyteguru/"><span >AnalyteGuru</span></a></li> <li id="menu-item-20" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-20"><a href="https://www.thermofisher.com/blog/metals/"><span >Analyzing Metals</span></a></li> <li id="menu-item-12913" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-12913"><a href="https://www.thermofisher.com/blog/ask-a-scientist/"><span >Ask a Scientist</span></a></li> <li id="menu-item-16" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-16"><a href="https://www.thermofisher.com/blog/behindthebench/"><span >Behind the Bench</span></a></li> <li id="menu-item-17769" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-17769"><a href="https://www.thermofisher.com/blog/biotechnology/"><span >Biotech at Scale</span></a></li> <li id="menu-item-16657" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-16657"><a href="https://www.thermofisher.com/blog/clinical-conversations/"><span >Clinical Conversations</span></a></li> <li id="menu-item-19" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-19"><a href="https://www.thermofisher.com/blog/food/"><span >Examining Food</span></a></li> <li id="menu-item-10924" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-10924"><a href="https://www.thermofisher.com/blog/identifying-threats/"><span >Identifying Threats</span></a></li> <li id="menu-item-16704" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-16704"><a href="https://www.thermofisher.com/blog/semiconductors/"><span >Illuminating Semiconductors</span></a></li> <li id="menu-item-16705" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-16705"><a href="https://www.thermofisher.com/blog/atomic-resolution/"><span >Life in Atomic Resolution</span></a></li> <li id="menu-item-10922" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-10922"><a href="https://www.thermofisher.com/blog/life-in-the-lab/"><span >Life in the Lab</span></a></li> <li id="menu-item-16658" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-16658"><a href="https://www.thermofisher.com/blog/oempowered/"><span >OEMpowered</span></a></li> <li id="menu-item-12812" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-12812"><a href="https://www.thermofisher.com/blog/connectedlab/"><span >The Connected Lab</span></a></li> </ul> </li> <li id="menu-item-24" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-24"><a href="https://www.thermofisher.com/blog/about-us/"><span >About Us</span></a></li> <li id="menu-item-25" class="menu-item menu-item-type-custom menu-item-object-custom menu-item-25"><a href="https://www.thermofisher.com/blog/contact-us/?site=behindthebench"><span >Contact</span></a></li> </ul></nav></div></section> </div><div class="breadcrumb"><span class="breadcrumb-link-wrap"><a href="https://www.thermofisher.com/blog/?">Accelerating Science</a></span><span class="breadcrumb-link-wrap"><a class="breadcrumb-link" href="https://www.thermofisher.com/blog/behindthebench/"><span class="breadcrumb-link-text-wrap">Behind the Bench</span></a><meta ></span> <span aria-label="breadcrumb separator">/</span> <span class="breadcrumb-link-wrap"><a class="breadcrumb-link" href="https://www.thermofisher.com/blog/behindthebench/precision-medicine/"><span class="breadcrumb-link-text-wrap">Precision Medicine</span></a><meta ></span> <span aria-label="breadcrumb separator">/</span> <span class="breadcrumb-current-title">Biobanks, Phenotypes and Population Variation: Revolution or Evolution in Complex Trait Genetics?</span></div></div></header><div class="site-inner"><div class="content-sidebar-wrap"><main class="content"><article class="post-12296 post type-post status-publish format-standard has-post-thumbnail category-precision-medicine tag-biobank tag-genotyping tag-predictive-genomics entry" aria-label="Biobanks, Phenotypes and Population Variation: Revolution or Evolution in Complex Trait Genetics?"><header class="entry-header"><h1 class="entry-title">Biobanks, Phenotypes and Population Variation: Revolution or Evolution in Complex Trait Genetics?</h1> <span class="post-info-author"> By <a href="https://www.thermofisher.com/blog/author/behind-the-bench-staff/" title="Posts by Behind The Bench Staff" rel="author">Behind The Bench Staff</a> </span> <span class="post-info-date"> 04.04.2019 </span> </header><div class="entry-content"><p><img decoding="async" class="alignright" style="float: right;margin: 5px" title="Professor Mark McCarthy" src="https://www.thermofisher.com/blog/wp-content/uploads/sites/9/2019/04/col18594-profile.jpg" alt="Professor Mark McCarthy looks at the camera" width="143" height="180" /><em>The <a class="css-1qdytug" href="https://www.thermofisher.com/us/en/home/products-and-services/promotions/life-science/human-genotyping.html" target="_blank" rel="noopener noreferrer">Predictive Genomics</a> blog series provides perspectives on the use and impact of genetic risk screening & pharmacogenomics in clinical research. Predictive Genomics is powerful capability to study disease risk and understand drug response in order to focus health care resources on improving outcomes and managing costs. To talk with our team on implementing your genetic-based initiatives, please <a class="css-1qdytug" href="https://www.thermofisher.com/us/en/home/global/forms/life-science/genotyping-microarray-contact.html" target="_blank" rel="noopener noreferrer">contact us</a> or browse our <a class="css-1qdytug" href="https://www.thermofisher.com/us/en/home/life-science/microarray-analysis.html" target="_blank" rel="noopener noreferrer">predictive genomics solutions</a>.</em></p> <p>Mark McCarthy is the Robert Turner Professor of Diabetic Medicine at the University of Oxford and Consultant Endocrinologist at the Oxford University Hospitals Trust, Oxford, UK. His research team has a long-standing interest in the genetics of complex traits including type 2 diabetes (T2D), obesity and growth. They have played a leading role in international efforts, such as the Wellcome Trust Case Control Consortium, that have applied genome-wide association and next-generation sequencing approaches to study these traits. Professor McCarthy’s team, along with international collaborators, has identified at least 50 new regions involved in susceptibility to T2D, and a similar number that impact other traits. Their work has provided novel biological insights into the pathogenesis of these conditions, and underpins future efforts to translate genetic findings into clinical practice with which they are closely involved.</p> <p>Using<a href="https://assets.thermofisher.com/TFS-Assets/GSD/Technical-Notes/uk-axiom-biobank-genotyping-arrays-datasheet.pdf" target="_blank" rel="noopener noreferrer"> UK Biobank’s genotyping array </a>as an example, Professor McCarthy discusses how new genetic studies can now integrate the power of imputation with our knowledge of population, disease and biological function to answer some of the remaining questions about the future role of genetics in precision medicine.</p> <p>Over the last few years, the genetics literature has featured a robust debate on the relative success or failure of genome-wide association studies (GWAS) [1–4]. It is clear that, even with over 2,000 significant GWAS loci reported across hundreds of traits [4], there is still much to do to dissect the genetic architecture of many common diseases. The next chapter of complex genetics looks particularly exciting. Advances in sequencing and genotyping technology are expanding our knowledge of genomic variation in human populations. Visionary initiatives like UK Biobank offer access to new phenotypes and outcomes data, and the opportunity for new and powerful study paradigms.</p> <p>Recently, Thermo Fisher Scientific talked with Professor Mark McCarthy about the past, present and future of complex trait genetics. As a key member of the team that designed UK Biobank’s genotyping array, Professor McCarthy also gave his view on how our knowledge of population variation, imputation-based data analysis, disease and biological function should be integrated into the design of state-of-the-art studies and the genotyping arrays that enable them.</p> <p><strong>Thermo Fisher:</strong> Arguably, the GWAS era began in earnest with the 2007 Wellcome Trust Case Control Consortium (WTCCC) paper [5]. What have been the key successes in complex trait genetics since then?</p> <p><strong>McCarthy:</strong> There were earlier GWAS successes, for example, in age-related macular degeneration [6] and inflammatory bowel disease [7]; but in terms of scale and scope, WTCCC marked the point where, for many in the field, the potential of GWAS became clear. The key success has been that the GWAS approach has proved to be so robust. This is, in part, because you are testing a relatively simple hypothesis: specifically, whether or not you see a difference in allele frequencies between cases and controls at a given variant. This has been sufficient to pick up many common variant signals without the need for complex analytical strategies.</p> <p>Another important point, particularly in retrospect, is that the field applied strong benchmarks early on for defining statistical significance. Few of the signals that reached these thresholds have subsequently proven to be false. This is very welcome when we remember the quite dismal era of candidate gene studies when almost nothing replicated.</p> <p>These genomic studies also encouraged rapid development of collaborations and the formation of large international consortia. As a result of this data aggregation, the field found a way to move rapidly towards robust signals, avoiding years wasted while individual labs published underpowered studies. This was a major advance in the field and has since had impact on other areas of biological sciences.</p> <p>All of this showed that high-throughput, large-scale genomics can be done and produces robust results. Out of that came thousands of loci for hundreds of traits.</p> <p><strong>Thermo Fisher:</strong> And, against these successes, what challenges remain that this latest era of complex trait studies will hope to address?</p> <p><strong>McCarthy:</strong> The biggest challenge lies in translating these robust GWAS loci into biological insights about disease pathogenesis. This progress is slower than some people expected or hoped, and the translational impact of GWAS has been relatively modest to date.</p> <p>This is principally because most variants identified by GWAS map to regulatory sequence, and most have quite modest effects on risk. Clearly, there’s all sorts of activity to address this challenge, not least the Encode Project [8,9], but it will take time to pull it all together.</p> <p><strong>Thermo Fisher:</strong> So, how should genomic strategies evolve to build on these achievements and address the challenges?</p> <p><strong>McCarthy:</strong> Actually, the answer is the same as it ever was: we need more alleles, more phenotypes, more samples and more analyses. This has been the case in genetics and other fields of science for some time. If you dissect this further, “more alleles” means exploring more populations, including multiethnic and isolate samples. It also requires us to expand our ability to detect different types of allelic variation across a broader frequency spectrum. We will want to look at somatic as well as germline variation.</p> <p>This is all about identifying as many of these human genetic “accidents of nature” as possible. Each allele that we find and link to a disease phenotype has the potential to improve our understanding of disease mechanisms. “More phenotypes” means expanding GWAS into new case-control studies, but especially into large biobanks where the link to health records makes a broader spectrum of phenotypes available. Biobanks allow us to discover how variants of interest from one disease contribute to risk in other diseases.</p> <p><img decoding="async" style="margin-left: auto;margin-right: auto" title="Large biobanks" src="https://www.thermofisher.com/blog/wp-content/uploads/sites/9/2019/04/col18594-biobank.jpg" alt="A biobank van and towers" width="600" height="377" /></p> <p> </p> <p style="text-align: center">Large biobanks are combining vast numbers of samples with detailed phenotyping data. Wellcome Images</p> <p> </p> <p>All of this is, of course, massively enabled by advances in genotyping and sequencing technology that allow us to capture the genetic variation that lies within these large and well-characterized biobanks.</p> <p>Finally, “more analyses” means developing methods tuned to take advantage of these data sets that are coming onstream. For example, multivariate methods will allow us to look at the relationship of genetic variants to many traits, not just one. This will improve power and reveal novel relationships.</p> <p><strong>Thermo Fisher:</strong> Most GWAS have been performed with arrays optimized to capture common European alleles. How does this need to change to enable studies of more alleles in more populations?</p> <p><strong>McCarthy:</strong> Clearly, there is a great deal of similarity in the variation, and the patterns of variation, between many ethnic groups, but there are also important differences. At the common variant level, the set of tag SNPs that you might want to select to most efficiently cover the genome will differ from population to population. This will matter even more as we focus more on functional alleles that are more likely to be rare and ethnicity-specific.</p> <blockquote><p><span style="font-size: 14pt">“The ideal scenario is to redesign your array every time so that it is optimized for your particular population and research needs.” </span></p></blockquote> <p>With a finite amount of money available and limited real estate on a given array, the ideal scenario is to redesign your array every time so that it is optimized for your particular population and research needs. And if you want, as many do, to combine GWAS and functional content — which, with our current level of understanding, most likely means variation in coding regions — you should design the most efficient set of SNPs that addresses both of those questions. That’s what we did in relation to UK Biobank. People working on other populations would ideally want to do something analogous, if cost and technology permitted.</p> <p><strong>Thermo Fisher:</strong> Can you explain a little more how you applied this approach in the context of UK Biobank?</p> <p><strong>McCarthy:</strong> Yes, of course. The design group, led by Peter Donnelly in Oxford, used UK sequence data from 1000 Genomes [10,11] and elsewhere to optimize the array content for the most efficient imputation of haplotypes seen in UK samples. This included extending the genome-wide scaffold beyond common variants and adding content that allowed the array to improve imputation in the low-frequency range. Such alleles have not previously been targeted with imputation-ready marker scaffolds.</p> <p>We also filtered the functional content to select alleles that we knew to be present in the UK population. We wanted to avoid wasting time and money on alleles likely to be monomorphic or present at extremely low frequency in UK Biobank participants.</p> <p>Overall, having the ability to specify content on a SNP-by-SNP basis is obviously a huge advantage when it comes to efficient coverage of the swath of variants that you’re trying to capture, either directly or by imputation. This is something that some manufacturers are better able to do than others. When arrays are made using predefined pools of SNPs, it is much more difficult to be so flexible.</p> <p><strong>Thermo Fisher:</strong> Would this approach of designing <a href="https://www.thermofisher.com/us/en/home/life-science/microarray-analysis/human-genotyping-pharmacogenomic-microbiome-solutions-microarrays/axiom-population-focused-arrays.html" target="_blank" rel="noopener noreferrer">population-focused arrays</a> cause difficulties later if different array data sets are combined in meta-analyses?</p> <p><strong>McCarthy:</strong> No. For common variants, it’s clear that imputation works extraordinarily well and continues to improve as reference data panels improve. There’s not much of a penalty when combining data from studies that used different common variant array content. We rarely found ourselves troubled by that, and it becomes even less of an issue as imputation improves.</p> <p>Of course, lower-frequency variants are more population-specific anyway. This requires a focused approach to array design; otherwise, your array will include variants that may be useful in other populations but are monomorphic or too rare to be informative in your population. This just wastes money and space on the array.</p> <p><strong>Thermo Fisher:</strong> So, what does a good GWAS imputation scaffold look like, and how is it different from the older pairwise tag SNP array designs?</p> <p><strong>McCarthy:</strong> A good scaffold is a set of markers that demonstrates, for the population of interest, the most efficient ability to impute genomic coverage across a broad allele frequency range. There’s no doubt that designing a scaffold using an imputation-aware, multimarker tagging approach is a much more efficient way to achieve coverage than using pairwise tagging. It requires fewer markers, and this is particularly important if you are designing cosmopolitan arrays for multiethnic studies or need coverage of low-frequency alleles. These types of designs will inevitably need more markers and more space on the array, so selection efficiency, during design, acquires even greater importance.</p> <blockquote><p><span style="font-size: 14pt">“There’s no doubt that designing a scaffold using an imputation-aware, multimarker tagging approach is a much more efficient way to achieve coverage.” </span></p></blockquote> <p>With the UK Biobank array, we didn’t want to ignore common variation, of course, because many new findings will come from studies in the 500,000 biobank participants. However, common variants have been well covered in European populations, so there was the desire to push imputation down into the low-frequency space. This has proved to be feasible, to some extent because UK Biobank provided a relatively constrained focus to the study.</p> <p><strong><img loading="lazy" decoding="async" style="margin: 5px auto" title="UK Biobank" src="https://www.thermofisher.com/blog/wp-content/uploads/sites/9/2019/04/col18594-globalresearchresource.jpg" alt="The interior of UK Biobank, with many stored samples on each wall" width="283" height="424" /></strong></p> <p style="text-align: center">UK Biobank is being developed as a global research resource. Wellcome Images</p> <p><strong>Thermo Fisher:</strong> As you noted, advances in sequencing and genotyping technology are providing access to millions of new variants. How should investigators prioritize what goes onto their genotyping array?</p> <p><strong>McCarthy:</strong> Well, clearly, there’s a set of things that should be on every array: the known GWAS signals because you wouldn’t want to miss out on those; ancestry informative markers (AIMs); fingerprinting markers; X/Y markers; human leukocyte antigen (HLA); and so on. They don’t take up a lot of real estate and they are tremendously useful for sanity checking, but also because they invite testing of specific hypotheses. Beyond that, it depends on your objective and on the hypotheses you have about where the strongest biological effects lie.</p> <p>We had exactly these discussions in the context of the UK Biobank array. For example, you have to make a decision on how much real estate you give to your GWAS scaffold and how much you give to functional or coding SNPs. This depends on your expectation of what you will discover with each.</p> <p>It also depends on the extent to which you up-weight coding variants over noncoding variants on the basis of their biological importance. Coding variants, for now at least, are that much easier to take forward into biological and physiological studies. That doesn’t mean that I have any prior belief about their relative contributions to genetic architecture. There’s still little empirical data on this, particularly for low-frequency variants. But, all else being equal, and given the pressure to show that these approaches produce biological insights, I’d generally favor discovering a coding variant over a noncoding variant.</p> <p>The architecture of most common diseases looks very similar at the common variant level, but this may not be true at lower frequency. As empirical data appears over the next couple of years, how you might more carefully weight these design decisions may become clearer. Some diseases may be more dominated by coding variants, for example, and this information will help to make the decision on how best to use the real estate on the array.</p> <p><strong>Thermo Fisher:</strong> You mentioned noncoding variants are harder to take forward. What role can eQTLs play?</p> <p><strong>McCarthy:</strong> Expression quantitative trait locus, or eQTL, analysis [12] is one tool we have that allows us to link regulatory variants to the transcripts whose expression they may influence. It’s extremely valuable when you find a strong eQTL that’s coincident with a GWAS signal.</p> <p>It’s best if that eQTL is detected in a pathologically relevant tissue, but that’s not always possible, and many eQTLs act across multiple tissues. Our current strategy is that a combined eQTL discovery approach is best. First, you can use eQTL data from whole blood or lymphoblastoid cell lines. These data, available from many thousands of samples, allow you to create an inventory of cis, and possibly trans, eQTLs. It won’t necessarily be very specific for the eQTLs in a different tissue, but it will be very sensitive for a subset of disease-relevant eQTLs because of the very large sample sizes.</p> <p>Second, you can explore your tissue of interest, usually involving much smaller samples. One of our interests is diabetes, so, with colleagues, we have completed expression studies in subcutaneous fat, muscle and pancreatic islets, for example. The smaller sample size means you will only pick up large eQTL effects specific to the tissue, but you can at least filter the larger lymphocyte and blood-based data sets for their relevance to your disease. I would argue you probably want to combine both approaches to get the optimal balance of sensitivity and specificity.</p> <p><img loading="lazy" decoding="async" style="margin: 5px auto" title="Taking samples for a biobank" src="https://www.thermofisher.com/blog/wp-content/uploads/sites/9/2019/04/col18594-harmonizedphenotyping.jpg" alt="A doctor checks a man's blood pressure with a cuff." width="411" height="479" /></p> <p> </p> <p style="text-align: center">Harmonized phenotyping in biobanks will provide a boost in study power. Wellcome Images</p> <p><strong>Thermo Fisher:</strong> Large prospective biobanks are being created in many countries. Some, like UK Biobank, are making data freely accessible to the global research community. How will these resources be used by the global community?</p> <p><strong>McCarthy:</strong> In several ways. The prospective component of UK Biobank is particularly important because you have biosamples, data and exposures at baseline. By linking these to electronic medical records, you have the potential to track what happens to those people over time. This is a powerful design for biomarker identification and validation. The long periods of prospective follow-up enable you to identify nested case-control groups based on incident disease. That, in turn, means you can hopefully identify genetic and nongenetic biomarkers that are prospectively and causally related to onset of disease. With the exposure data available, you can also do much more comprehensive studies of gene–environment interactions than have been possible before.</p> <p>The scale, harmonization and standardization of phenotype and genotype that we will see in large biobanks will almost certainly pay dividends even for traits where we already have studies involving several hundreds of thousands of people. The combination of harmonized genotyping and phenotyping, and the availability of individual-level data on all participants, will provide a boost in power above and beyond that which is possible from the sample size alone.</p> <p>When you compare a biobank such as this to conventional case-control samples, one real advantage is the ability to perform these analyses across a wide range of phenotypes. Understanding pleiotropy may enable us to pick up signals that were not quite detectable before and to better understand the relationships between traits. A good existing example of this is the alleles in the HNF1B gene that increase risk of T2D but which are also protective for prostate cancer [13,14]. These two diseases don’t occupy the same chapter of a medical textbook, but the shared genetics point to unexpected mechanistic connections.</p> <p>Prospective biobanks are also going to be very valuable for the evaluation of human therapeutic targets. Imagine that you have already found an interesting association between a coding variant and your disease of interest. The variant is in a gene that looks eminently druggable. By looking across diverse phenotypes, you can test whether the same genetic variant has other trait associations. You can then assess the effect of perturbation of the protein, in the direction appropriate for the disease of interest, on those secondary traits. Your promising drug target becomes a lot less attractive if it’s likely that any drug, developed to mimic the beneficial effect on the disease of interest, will be likely to cause undesirable effects on those secondary traits.</p> <p><strong>Thermo Fisher:</strong> Recently there has been some debate on using controls from prospective biobanks for studies of cases from other countries. What are your thoughts?</p> <p><strong>McCarthy:</strong> I would recommend caution. We’ve seen several examples where researchers have over-interpreted the differences they found between cases and controls when the two have different origins or have been typed on different arrays. There are some major technical challenges to such analyses, and it’s not trivial to overcome them. I’m not a great fan of doing formal analyses of this type.</p> <p>However, access to large biobank data sets can be useful for evaluating apparent case associations, particularly for rare variants. For example, you may have a rare variant that looks interesting and which you have seen in only three out of 10,000 individuals, all of them cases. Going to any single source of controls and seeing the same variant in zero out of 10,000 individuals won’t tell you very much. But, if you look across many different biobanks, the representation of that allele, or of other alleles in the same gene, becomes meaningful. Has that variant ever been seen in those biobanks? If so, what is its relationship to your trait of interest? This can be really helpful as you try to evaluate the significance of those three instances where disease cases carry the rare allele.</p> <p>Large data sets allow these kinds of “informal” analyses. That’s why the Exome Variant Server (EVS) database [15] arising out of the Exome Sequencing Project (ESP) has been so useful. Researchers generally don’t do an association study comparing their cases against ESP controls. Instead, when they see a variant of interest in their own case-control analyses, they go and look in EVS and get a sense of how frequently others have seen that variant. They also look at associated phenotypes because that allows them to prioritize particular variants for further study.</p> <p><strong>Thermo Fisher:</strong> This all suggests that exciting times are ahead for complex trait genetics. Looking ahead, what will we learn in the next five years, and what clinical impact would you hope to see beyond that?</p> <p><strong>McCarthy:</strong> Well, over the next four to five years we’ll have sequenced and genotyped enough people to have a pretty good idea of the genetic architecture of complex traits. We’ll have a better understanding of the contribution of rare alleles and low-frequency alleles for many traits, and we’ll know if all diseases behave fairly similarly or whether they have rather different architectures. For example, maybe we’ll find more rare coding variants in one disease than another. There’s a lot of opinion in this area; we really need empirical data to establish which hypotheses are sustainable. This will have a major impact on how we plan our strategies for further discoveries.</p> <p>These answers will also help to define how we might be able to use genetic data to drive prediction and stratification of disease. From what we know today, DNA sequence alone will provide rather imprecise estimates of individual risk for most common complex traits. However, by gathering omics data at intervals during a person’s lifetime, we could derive “molecular signatures” of disease. In combination with sequence and exposure data, we can hope to refine and update an individual’s disease risk profile in real time. It would, of course, be transformative if we can use genetics to stratify disease subtype, make mechanistic inferences and suggest specific treatment options for individual patients. It remains to be seen to what extent this is possible: this is another area characterized by a lot of opinion and very little data. We’re already seeing the potential of this approach in various types of cancers, but I suspect the power of this approach will vary between diseases.</p> <p>As I’ve noted already, when we get deeper into this through sequencing backed up with custom arrays, we will learn more about functional variants in drug targets. Where we have good human validation data, we will be able to parse those targets for their potential adverse effects, and that will clearly benefit pharma. The industry is increasingly disappointed by targets that have been validated in preclinical models but perform poorly as soon as they hit first-in-man trials. I would hope, as we have seen with PCSK9 [16,17], that human genetics will be a very powerful tool for putting better-quality targets forward for drug development.</p> <p><strong>Thermo Fisher:</strong> Thank you very much.</p> <p>We also have other <a href="https://www.thermofisher.com/us/en/home/life-science/gene-expression-analysis-genotyping/genotyping-genomic-profiling/scientist-spotlights-genotyping.html" target="_blank" rel="noopener noreferrer">stories on genotyping strategies</a> adopted by other researchers, and if you’d like to get your technical questions answered, just<a href="https://www.thermofisher.com/us/en/home/global/forms/life-science/genotyping-microarray-contact.html" target="_blank" rel="noopener noreferrer"> reach out to Thermo Fisher</a>.</p> <p><span class="sidebar-addition"><a class="button is-red" href="https://www.thermofisher.com/us/en/home/global/forms/life-science/genotyping-microarray-contact.html">Contact us</a></span></p> <p><strong>Further reading: </strong></p> <p>Applied Biosystems™ Axiom™ UK Biobank Genotyping Array</p> <p>The array designed by the UK Biobank team is now available to all investigators, and check out our <a href="https://assets.thermofisher.com/TFS-Assets/GSD/Technical-Notes/uk-axiom-biobank-genotyping-arrays-datasheet.pdf" target="_blank" rel="noopener noreferrer">data analysis sheet</a> learn more about this design and options to modify it for other populations.</p> <p>UK Biobank</p> <p>To find out more about UK Biobank and how you can access data for your own research, go to <a href="http://www.ukbiobank.ac.uk." target="_blank" rel="noopener noreferrer">www.ukbiobank.ac.uk</a>.</p> <p><strong>References: </strong></p> <p>1. McCarthy, M.I., et al. (2008) “Genome-wide association studies for complex traits: consensus, uncertainty and challenges,” Nat. Rev. Genet. 9: 356−369.</p> <p>2. McClellan, J., and King, M.C. (2010) “Genetic heterogeneity in human disease,” Cell 141: 210−217.</p> <p>3. Sullivan, P., et al. (2011) “Don’t give up on GWAS,” Mol. Psychiatry 17: 2−3.</p> <p>4. Visscher, P.M., et al. (2012) “Five Years of GWAS Discovery,” American Journal of Human Genetics 90: 7−24.</p> <p>5. The Wellcome Trust Case Control Consortium. (2007) “Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls,” Nature 447: 661−678.</p> <p>6. Klein, R.J., et al. (2005) “Complement factor H polymorphism in age-related macular degeneration,” Science 308: 385−389.</p> <p>7. Duerr, R.H., et al. (2006) “A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.” Science 314: 1461−1463.</p> <p>8. Division of Genome Sciences, NHGRI, NIH. The ENCODE Project: ENCyclopedia Of DNA Elements. www.genome.gov/10005107 [Online].</p> <p>9. The ENCODE Project Consortium. (2004) “The ENCODE (ENCyclopedia Of DNA Elements) Project,” Science 306: 636−640.</p> <p>10. The 1000 Genomes Project Consortium. (2010) “A map of human genome variation from population-scale sequencing,” Nature 467: 1061−1073.</p> <p>11. The 1000 Genomes Project Consortium. 1000 Genomes: A Deep Catalog of Human Genetic Variation. www.1000genomes.org [Online].</p> <p>12. Cookson, W., et al. (2009) “Mapping complex disease traits with global gene expression,” Nat. Rev. Genet. 10: 184−194.</p> <p>13. Gudmundsson, J., et al. (2007) “Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes,” Nat. Genet. 39: 977−983.</p> <p>14. Frayling, T.M., et al. (2008) “A genetic link between type 2 diabetes and prostate cancer,” Diabetologia 51: 1757−1760.</p> <p>15. NHLBI GO Exome Sequencing Project (ESP), Seattle. Exome Variant Server. http://evs.gs.washington.edu/EVS [Online].</p> <p>16. Hall, S.S. (2013) “A gene of rare effect,” Nature 406:1 52−155.</p> <p>17. Willrich, M.A., and Baudhuin, L.M. (2013) “PCSK9 and the road less traveled: how an unconventional approach led to a major discovery,” Clin. Chem. 59: 1283−1284.</p> <p>Read more interviews at <a href="http://thermofisher.com/scientistspotlight" target="_blank" rel="noopener noreferrer">thermofisher.com/scientistspotlight</a></p> <p>For research use only. Not for use in diagnostic procedures.</p> <p></p> <p></p> <p></p> <aside class="mashsb-container mashsb-main "><div class="mashsb_above_buttons">Share this article </div><div class="mashsb-box"><div class="mashsb-count mash-large" style="float:left"><div class="counts mashsbcount">116</div><span class="mashsb-sharetext">SHARES</span></div><div class="mashsb-buttons"><a class="mashicon-facebook mash-large mashsb-noshadow" href="https://www.facebook.com/sharer.php?u=https%3A%2F%2Fwww.thermofisher.com%2Fblog%2Fbehindthebench%2Fbiobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics%2F" target="_top" rel="nofollow"><span class="icon"></span><span class="text">Facebook</span></a><a class="mashicon-linkedin mash-large mashsb-noshadow" href="https://www.linkedin.com/shareArticle?trk=Biobanks%2C+Phenotypes+and+Population+Variation%3A+Revolution+or+Evolution+in+Complex+Trait+Genetics%3F&url=https%3A%2F%2Fwww.thermofisher.com%2Fblog%2Fbehindthebench%2Fbiobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics%2F" target="_top" rel="nofollow"><span class="icon"></span><span class="text">Linkedin</span></a><a class="mashicon-twitter mash-large mashsb-noshadow" href="https://twitter.com/intent/tweet?text=Biobanks%2C%20Phenotypes%20and%20Population%20Variation%3A%20Revolution%20or%20Evolution%20in%20Complex%20Trait%20Genetics%3F&url=https://www.thermofisher.com/blog/behindthebench/?p=12296&via=thermofisher" target="_top" rel="nofollow"><span class="icon"></span><span class="text">Twitter</span></a><a class="mashicon-mail mash-large mashsb-noshadow" href="mailto:?subject=Check%20out%20this%20article%20from%20Accelerating%20Science&body=Check%20out%20this%20article%20I%20just%20read%3Ahttps%3A%2F%2Fwww.thermofisher.com%2Fblog%2Fbehindthebench%2Fbiobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics%2F" target="_top" rel="nofollow"><span class="icon"></span><span class="text">Mail</span></a><div class="onoffswitch2 mash-large mashsb-noshadow" style="display:none"></div></div> </div> <div style="clear:both"></div><div class="mashsb-toggle-container"></div></aside> </div></article> <div id="respond" class="comment-respond"> <h3 id="reply-title" class="comment-reply-title">Leave a Reply <small><a rel="nofollow" id="cancel-comment-reply-link" href="/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/#respond" style="display:none;">Cancel reply</a></small></h3><form action="https://www.thermofisher.com/blog/behindthebench/wp-comments-post.php" method="post" id="commentform" class="comment-form" novalidate><p class="comment-notes"><span id="email-notes">Your email address will not be published.</span> <span class="required-field-message">Required fields are marked <span class="required">*</span></span></p><p class="comment-form-comment"><label for="comment">Comment <span class="required">*</span></label> <textarea id="comment" name="comment" cols="45" rows="8" maxlength="65525" required></textarea></p><p class="comment-form-author"><label for="author">Name <span class="required">*</span></label> <input id="author" name="author" type="text" value="" size="30" maxlength="245" autocomplete="name" required /></p> <p class="comment-form-email"><label for="email">Email <span class="required">*</span></label> <input id="email" name="email" type="email" value="" size="30" maxlength="100" aria-describedby="email-notes" autocomplete="email" required /></p> <p class="comment-form-url"><label for="url">Website</label> <input id="url" name="url" type="url" value="" size="30" maxlength="200" autocomplete="url" /></p> <p class="form-submit"><input name="submit" type="submit" id="submit" class="submit" value="Post Comment" /> <input type='hidden' name='comment_post_ID' value='12296' id='comment_post_ID' /> <input type='hidden' name='comment_parent' id='comment_parent' value='0' /> </p><p style="display: none;"><input type="hidden" id="akismet_comment_nonce" name="akismet_comment_nonce" value="7a6c601247" /></p><p style="display: none !important;" class="akismet-fields-container" data-prefix="ak_"><label>Δ<textarea name="ak_hp_textarea" cols="45" rows="8" maxlength="100"></textarea></label><input type="hidden" id="ak_js_2" name="ak_js" value="21"/><script>document.getElementById( "ak_js_2" ).setAttribute( "value", ( new Date() ).getTime() );</script></p></form> </div> <div class="adjacent-entry-pagination pagination"><div class="pagination-previous alignleft"><i class="fa fa-icon fa-chevron-left"></i> <a href="https://www.thermofisher.com/blog/behindthebench/score-one-for-large-scale-genotyping-as-polygenic-risk-scoring-advances/" rel="prev">Score One for Large-Scale Genotyping as Polygenic Risk Scoring Advances</a></div><div class="pagination-next alignright"><a href="https://www.thermofisher.com/blog/behindthebench/the-finngen-research-project-combining-genomics-and-health-record-data-to-understand-disease-mechanisms/" rel="next">The FinnGen Research Project: Combining Genomics and Health Record Data to Understand Disease Mechanisms</a> <i class="fa fa-icon fa-chevron-right"></i></div></div></main></div></div><footer class="site-footer"><div class="wrap"><div class="creds"><p class="footer-links"><a href="https://corporate.thermofisher.com/en/footer/privacy-statement.html" target="_blank" rel="noopener noreferrer">Privacy Statement</a><a href="https://corporate.thermofisher.com/en/footer/terms-and-conditions.html" target="_blank" rel="noopener noreferrer">Terms & Conditions</a><a href="/blog/locations/">Locations</a><a href="/blog/sitemap/">Sitemap</a></p><p>© 2024 <a href="https://www.thermofisher.com">Thermo Fisher Scientific</a>. All Rights Reserved.</p></div><span class="social-links"><p>Talk to us</p><a href="https://www.facebook.com/thermofisher" class="facebook" target="_blank" rel="noopener noreferrer"><i class="fa fa-icon fa-facebook"></i></a><a href="https://www.linkedin.com/company/thermo-fisher-scientific" class="linkedin" target="_blank" rel="noopener noreferrer"><i class="fa fa-icon fa-linkedin"></i></a><a href="https://twitter.com/thermofisher" class="twitter" target="_blank" rel="noopener noreferrer"><i class="fa fa-icon fa-twitter"></i></a><a href="https://www.youtube.com/c/thermofisher" class="youtube" target="_blank" rel="noopener noreferrer"><i class="fa fa-icon fa-youtube"></i></a></span></div></footer></div><div style="display: none;"><div id="boxzilla-box-10626-content"><p><h4>Get news and research reviews on the topic of your choice, right in your inbox.</h4> </p> <p><a id="subscribe" class="button" href="#">Subscribe Now</a></p> <div id="subscribe-form"> <div class='gf_browser_unknown gform_wrapper gform_legacy_markup_wrapper gform-theme--no-framework' data-form-theme='legacy' data-form-index='1' id='gform_wrapper_1' ><form method='post' enctype='multipart/form-data' id='gform_1' action='/blog/behindthebench/biobanks-phenotypes-and-population-variation-revolution-or-evolution-in-complex-trait-genetics/' formid='1'> <div class='gform-body gform_body'><ul id='gform_fields_1' class='gform_fields top_label form_sublabel_above description_below validation_below'><li id="field_1_4" class="gfield gfield--type-text first-name field_sublabel_above gfield--no-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_1_4" ><label class='gfield_label gform-field-label screen-reader-text' for='input_1_4'>First Name</label><div class='ginput_container ginput_container_text'><input name='input_4' id='input_1_4' type='text' value='' class='large' placeholder='First Name' aria-invalid="false" /> </div></li><li id="field_1_5" class="gfield gfield--type-text last-name field_sublabel_above gfield--no-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_1_5" ><label class='gfield_label gform-field-label screen-reader-text' for='input_1_5'>Last Name</label><div class='ginput_container ginput_container_text'><input name='input_5' id='input_1_5' type='text' value='' class='large' placeholder='Last Name' aria-invalid="false" /> </div></li><li id="field_1_2" class="gfield gfield--type-email email gfield_contains_required field_sublabel_above gfield--no-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_1_2" ><label class='gfield_label gform-field-label screen-reader-text' for='input_1_2'>Email<span class="gfield_required"><span class="gfield_required gfield_required_asterisk">*</span></span></label><div class='ginput_container ginput_container_email'> <input name='input_2' id='input_1_2' type='email' value='' class='large' placeholder='Email' aria-required="true" aria-invalid="false" /> </div></li><li id="field_1_6" class="gfield gfield--type-text company field_sublabel_above gfield--no-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_1_6" ><label class='gfield_label gform-field-label screen-reader-text' for='input_1_6'>Company</label><div class='ginput_container ginput_container_text'><input name='input_6' id='input_1_6' type='text' value='' class='large' placeholder='Company' aria-invalid="false" /> </div></li><li id="field_1_7" class="gfield gfield--type-select country gfield_contains_required field_sublabel_above gfield--no-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_1_7" ><label class='gfield_label gform-field-label screen-reader-text' for='input_1_7'>Select your country/region<span class="gfield_required"><span class="gfield_required gfield_required_asterisk">*</span></span></label><div class='ginput_container ginput_container_select'><select name='input_7' id='input_1_7' class='large gfield_select' aria-required="true" aria-invalid="false" ><option value='' selected='selected' class='gf_placeholder'>Select your country/region</option><option value='United States' >United States</option><option value='Canada' >Canada</option><option value='Afghanistan' >Afghanistan</option><option value='Albania' >Albania</option><option value='Algeria' >Algeria</option><option value='American Samoa' >American Samoa</option><option value='Andorra' >Andorra</option><option value='Angola' >Angola</option><option value='Anguilla' >Anguilla</option><option value='Antarctica' >Antarctica</option><option value='Antigua and Barbuda' >Antigua and Barbuda</option><option value='Argentina' >Argentina</option><option value='Armenia' >Armenia</option><option value='Aruba' >Aruba</option><option value='Australia' >Australia</option><option value='Austria' >Austria</option><option value='Azerbaijan' >Azerbaijan</option><option value='Bahamas' >Bahamas</option><option value='Bahrain' >Bahrain</option><option value='Bangladesh' >Bangladesh</option><option value='Barbados' >Barbados</option><option value='Belarus' >Belarus</option><option value='Belgium' >Belgium</option><option value='Belize' >Belize</option><option value='Benin' >Benin</option><option value='Bermuda' >Bermuda</option><option value='Bhutan' >Bhutan</option><option value='Bolivia' >Bolivia</option><option value='Bosnia and Herzegovina' >Bosnia and Herzegovina</option><option value='Botswana' >Botswana</option><option value='Bouvet Island' >Bouvet Island</option><option value='Brazil' >Brazil</option><option value='British Indian Ocean Territory' >British Indian Ocean Territory</option><option value='Brunei Darussalam' >Brunei Darussalam</option><option value='Bulgaria' >Bulgaria</option><option value='Burkina Faso' >Burkina Faso</option><option value='Burundi' >Burundi</option><option value='Cambodia' >Cambodia</option><option value='Cameroon' >Cameroon</option><option value='Cape Verde' >Cape Verde</option><option value='Cayman Islands' >Cayman Islands</option><option value='Central African Republic' >Central African Republic</option><option value='Chad' >Chad</option><option value='Chile' >Chile</option><option value='China' >China</option><option value='Christmas Island' >Christmas Island</option><option value='Cocos (Keeling) Islands' >Cocos (Keeling) Islands</option><option value='Colombia' >Colombia</option><option value='Comoros' >Comoros</option><option value='Congo' >Congo</option><option value='Congo, The Democratic Republic of' >Congo, The Democratic Republic of</option><option value='Cook Islands' >Cook Islands</option><option value='Costa Rica' >Costa Rica</option><option value='Cote D'Ivoire' >Cote D'Ivoire</option><option value='Croatia' >Croatia</option><option value='Cuba' >Cuba</option><option value='Cyprus' >Cyprus</option><option value='Czech Republic' >Czech Republic</option><option value='Denmark' >Denmark</option><option value='Djibouti' >Djibouti</option><option value='Dominica' >Dominica</option><option value='Dominican Republic' >Dominican Republic</option><option value='East Timor' >East Timor</option><option value='Ecuador' >Ecuador</option><option value='Egypt' >Egypt</option><option value='El Salvador' >El Salvador</option><option value='Equatorial Guinea' >Equatorial Guinea</option><option value='Eritrea' >Eritrea</option><option value='Estonia' >Estonia</option><option value='Ethiopia' >Ethiopia</option><option value='Falkland Islands (Malvinas)' >Falkland Islands (Malvinas)</option><option value='Faroe Islands' >Faroe Islands</option><option value='Fiji' >Fiji</option><option value='Finland' >Finland</option><option value='Fmr Yugoslav Rep of Macedonia' >Fmr Yugoslav Rep of Macedonia</option><option value='France' >France</option><option value='French Guiana' >French Guiana</option><option value='French Polynesia' >French Polynesia</option><option value='French Southern Territories' >French Southern Territories</option><option value='Gabon' >Gabon</option><option value='Gambia' >Gambia</option><option value='Georgia' >Georgia</option><option value='Germany' >Germany</option><option value='Ghana' >Ghana</option><option value='Gibraltar' >Gibraltar</option><option value='Greece' >Greece</option><option value='Greenland' >Greenland</option><option value='Grenada' >Grenada</option><option value='Guadeloupe' >Guadeloupe</option><option value='Guam' >Guam</option><option value='Guatemala' >Guatemala</option><option value='Guinea' >Guinea</option><option value='Guinea-Bissau' >Guinea-Bissau</option><option value='Guyana' >Guyana</option><option value='Haiti' >Haiti</option><option value='Heard and McDonald Islands' >Heard and McDonald Islands</option><option value='Holy See (Vatican City State)' >Holy See (Vatican City State)</option><option value='Honduras' >Honduras</option><option value='Hong Kong' >Hong Kong</option><option value='Hungary' >Hungary</option><option value='Iceland' >Iceland</option><option value='India' >India</option><option value='Indonesia' >Indonesia</option><option value='Iran (Islamic Republic Of)' >Iran (Islamic Republic Of)</option><option value='Iraq' >Iraq</option><option value='Ireland' >Ireland</option><option value='Israel' >Israel</option><option value='Italy' >Italy</option><option value='Jamaica' >Jamaica</option><option value='Japan' >Japan</option><option value='Jordan' >Jordan</option><option value='Kazakstan' >Kazakstan</option><option value='Kenya' >Kenya</option><option value='Kiribati' >Kiribati</option><option value='Korea, Democratic People's Rep' >Korea, Democratic People's Rep</option><option value='Korea, Republic of' >Korea, Republic of</option><option value='Kuwait' >Kuwait</option><option value='Kyrgyzstan' >Kyrgyzstan</option><option value='Lao People's Democratic Rep' >Lao People's Democratic Rep</option><option value='Latvia' >Latvia</option><option value='Lebanon' >Lebanon</option><option value='Lesotho' >Lesotho</option><option value='Liberia' >Liberia</option><option value='Libyan Arab Jamahiriya' >Libyan Arab Jamahiriya</option><option value='Liechtenstein' >Liechtenstein</option><option value='Lithuania' >Lithuania</option><option value='Luxembourg' >Luxembourg</option><option value='Macau' >Macau</option><option value='Madagascar' >Madagascar</option><option value='Malawi' >Malawi</option><option value='Malaysia' >Malaysia</option><option value='Maldives' >Maldives</option><option value='Mali' >Mali</option><option value='Malta' >Malta</option><option value='Marshall Islands' >Marshall Islands</option><option value='Martinique' >Martinique</option><option value='Mauritania' >Mauritania</option><option value='Mauritius' >Mauritius</option><option value='Mayotte' >Mayotte</option><option value='Mexico' >Mexico</option><option value='Micronesia, Federated States' >Micronesia, Federated States</option><option value='Moldova, Republic of' >Moldova, Republic of</option><option value='Monaco' >Monaco</option><option value='Mongolia' >Mongolia</option><option value='Montserrat' >Montserrat</option><option value='Morocco' >Morocco</option><option value='Mozambique' >Mozambique</option><option value='Myanmar' >Myanmar</option><option value='Namibia' >Namibia</option><option value='Nauru' >Nauru</option><option value='Nepal' >Nepal</option><option value='Netherlands' >Netherlands</option><option value='Netherlands Antilles' >Netherlands Antilles</option><option value='New Caledonia' >New Caledonia</option><option value='New Zealand' >New Zealand</option><option value='Nicaragua' >Nicaragua</option><option value='Niger' >Niger</option><option value='Nigeria' >Nigeria</option><option value='Niue' >Niue</option><option value='Norfolk Island' >Norfolk Island</option><option value='Northern Mariana Islands' >Northern Mariana Islands</option><option value='Norway' >Norway</option><option value='Oman' >Oman</option><option value='Pakistan' >Pakistan</option><option value='Palau' >Palau</option><option value='Panama' >Panama</option><option value='Papua New Guinea' >Papua New Guinea</option><option value='Paraguay' >Paraguay</option><option value='Peru' >Peru</option><option value='Philippines' >Philippines</option><option value='Pitcairn' >Pitcairn</option><option value='Poland' >Poland</option><option value='Portugal' >Portugal</option><option value='Puerto Rico' >Puerto Rico</option><option value='Qatar' >Qatar</option><option value='Reunion' >Reunion</option><option value='Romania' >Romania</option><option value='Russian Federation' >Russian Federation</option><option value='Rwanda' >Rwanda</option><option value='Saint Helena' >Saint Helena</option><option value='Saint Kitts and Nevis' >Saint Kitts and Nevis</option><option value='Saint Lucia' >Saint Lucia</option><option value='Saint Pierre and Miquelon' >Saint Pierre and Miquelon</option><option value='Samoa' >Samoa</option><option value='San Marino' >San Marino</option><option value='Sao Tome and Principe' >Sao Tome and Principe</option><option value='Saudi Arabia' >Saudi Arabia</option><option value='Senegal' >Senegal</option><option value='Seychelles' >Seychelles</option><option value='Sierra Leone' >Sierra Leone</option><option value='Singapore' >Singapore</option><option value='Slovakia' >Slovakia</option><option value='Slovenia' >Slovenia</option><option value='Solomon Islands' >Solomon Islands</option><option value='Somalia' >Somalia</option><option value='South Africa' >South Africa</option><option value='Spain' >Spain</option><option value='Sri Lanka' >Sri Lanka</option><option value='Sth Georgia & Sth Sandwich Is' >Sth Georgia & Sth Sandwich Is</option><option value='St Vincent and the Grenadines' >St Vincent and the Grenadines</option><option value='Sudan' >Sudan</option><option value='Suriname' >Suriname</option><option value='Svalbard and Jan Mayen' >Svalbard and Jan Mayen</option><option value='Swaziland' >Swaziland</option><option value='Sweden' >Sweden</option><option value='Switzerland' >Switzerland</option><option value='Syrian Arab Republic' >Syrian Arab Republic</option><option value='Taiwan, Province of China' >Taiwan, Province of China</option><option value='Tajikistan' >Tajikistan</option><option value='Tanzania, United Republic of' >Tanzania, United Republic of</option><option value='Thailand' >Thailand</option><option value='Togo' >Togo</option><option value='Tokelau' >Tokelau</option><option value='Tonga' >Tonga</option><option value='Trinidad and Tobago' >Trinidad and Tobago</option><option value='Tunisia' >Tunisia</option><option value='Turkey' >Turkey</option><option value='Turkmenistan' >Turkmenistan</option><option value='Turks and Caicos Islands' >Turks and Caicos Islands</option><option value='Tuvalu' >Tuvalu</option><option value='Uganda' >Uganda</option><option value='Ukraine' >Ukraine</option><option value='United Arab Emirates' >United Arab Emirates</option><option value='United Kingdom' >United Kingdom</option><option value='Uruguay' >Uruguay</option><option value='US Minor Outlying Islands' >US Minor Outlying Islands</option><option value='Uzbekistan' >Uzbekistan</option><option value='Vanuatu' >Vanuatu</option><option value='Venezuela' >Venezuela</option><option value='Vietnam' >Vietnam</option><option value='Virgin Islands (British)' >Virgin Islands (British)</option><option value='Virgin Islands (U.S.)' >Virgin Islands (U.S.)</option><option value='Wallis and Futuna Islands' >Wallis and Futuna Islands</option><option value='Western Sahara' >Western Sahara</option><option value='Yemen' >Yemen</option><option value='Yugoslavia' >Yugoslavia</option><option value='Zambia' >Zambia</option><option value='Zimbabwe' >Zimbabwe</option></select></div></li><li id="field_1_8" class="gfield gfield--type-select sub-category gfield_contains_required field_sublabel_above gfield--no-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_1_8" ><label class='gfield_label gform-field-label screen-reader-text' for='input_1_8'>Pick a category<span class="gfield_required"><span class="gfield_required gfield_required_asterisk">*</span></span></label><div class='ginput_container ginput_container_select'><select name='input_8' id='input_1_8' class='large gfield_select' aria-required="true" aria-invalid="false" ><option value='' selected='selected' class='gf_placeholder'>Pick a category</option><option value='Accelerating Microscopy' >Accelerating Microscopy</option><option value='Advancing Materials' >Advancing Materials</option><option value='Advancing Mining' >Advancing Mining</option><option value='Analyzing Metals' >Analyzing Metals</option><option value='Behind the Bench' selected='selected'>Behind the Bench</option><option value='Examining Food' >Examining Food</option><option value='Identifying Threats' >Identifying Threats</option><option value='Life in the Lab' >Life in the Lab</option></select></div></li><li id="field_1_9" class="gfield gfield--type-checkbox gfield--type-choice gfield_contains_required field_sublabel_above gfield--no-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_1_9" ><label class='gfield_label gform-field-label screen-reader-text gfield_label_before_complex' ><span class="gfield_required"><span class="gfield_required gfield_required_asterisk">*</span></span></label><div class='ginput_container ginput_container_checkbox'><ul class='gfield_checkbox' id='input_1_9'><li class='gchoice gchoice_1_9_1'> <input class='gfield-choice-input' name='input_9.1' type='checkbox' value='1' id='choice_1_9_1' /> <label for='choice_1_9_1' id='label_1_9_1' class='gform-field-label gform-field-label--type-inline'>I would like to receive information about content, events, products, services and promotions from Thermo Fisher Scientific and its affiliates. I agree for the Thermo Fisher Scientific group (thermofisher.com/legalentities) to contact me by email and/or telephone to inform me of events, products, services and/or promotions offered in connection with the brands Thermo Scientific™, Applied Biosystems™, Invitrogen™, Gibco™, Ion Torrent ™, Unity Lab Services™, Fisher Scientifc™. I can withdraw my consent and unsubscribe at any time by emailing reply@thermofisher.com By submitting my data, I give consent to the collection, processing and use of my personal data in accordance with the Thermo Fisher Scientific Policy (thermofisher.com/privacypolicy).</label> </li></ul></div></li><li id="field_1_10" class="gfield gfield--type-hidden gform_hidden field_sublabel_above gfield--no-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_1_10" ><div class='ginput_container ginput_container_text'><input name='input_10' id='input_1_10' type='hidden' class='gform_hidden' aria-invalid="false" value='Behind the Bench' /></div></li><li id="field_1_11" class="gfield gfield--type-honeypot gform_validation_container field_sublabel_above gfield--has-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_1_11" ><label class='gfield_label gform-field-label' for='input_1_11'>Phone</label><div class='ginput_container'><input name='input_11' id='input_1_11' type='text' value='' autocomplete='new-password'/></div><div class='gfield_description' id='gfield_description_1_11'>This field is for validation purposes and should be left unchanged.</div></li></ul></div> <div class='gform_footer top_label'> <input type='submit' id='gform_submit_button_1' class='gform_button button' value='Subscribe' onclick='if(window["gf_submitting_1"]){return false;} if( !jQuery("#gform_1")[0].checkValidity || jQuery("#gform_1")[0].checkValidity()){window["gf_submitting_1"]=true;} ' onkeypress='if( event.keyCode == 13 ){ if(window["gf_submitting_1"]){return false;} if( !jQuery("#gform_1")[0].checkValidity || jQuery("#gform_1")[0].checkValidity()){window["gf_submitting_1"]=true;} jQuery("#gform_1").trigger("submit",[true]); }' /> <input type='hidden' class='gform_hidden' name='is_submit_1' value='1' /> <input type='hidden' class='gform_hidden' name='gform_submit' value='1' /> <input type='hidden' class='gform_hidden' name='gform_unique_id' value='' /> <input type='hidden' class='gform_hidden' name='state_1' value='WyJbXSIsImFiYmI5YzY2YWJjNDlmYzYwZjUzMTBiZjQ0NGIwZGNmIl0=' /> <input type='hidden' class='gform_hidden' name='gform_target_page_number_1' id='gform_target_page_number_1' value='0' /> <input type='hidden' class='gform_hidden' name='gform_source_page_number_1' id='gform_source_page_number_1' value='1' /> <input type='hidden' name='gform_field_values' value='' /> </div> <p style="display: none !important;" class="akismet-fields-container" data-prefix="ak_"><label>Δ<textarea name="ak_hp_textarea" cols="45" rows="8" maxlength="100"></textarea></label><input type="hidden" id="ak_js_3" name="ak_js" value="76"/><script>document.getElementById( "ak_js_3" ).setAttribute( "value", ( new Date() ).getTime() );</script></p></form> </div><script type="text/javascript"> /* <![CDATA[ */ gform.initializeOnLoaded( function() {gformInitSpinner( 1, 'https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/images/spinner.svg', true );jQuery('#gform_ajax_frame_1').on('load',function(){var contents = jQuery(this).contents().find('*').html();var is_postback = contents.indexOf('GF_AJAX_POSTBACK') >= 0;if(!is_postback){return;}var form_content = jQuery(this).contents().find('#gform_wrapper_1');var is_confirmation = jQuery(this).contents().find('#gform_confirmation_wrapper_1').length > 0;var is_redirect = contents.indexOf('gformRedirect(){') >= 0;var is_form = form_content.length > 0 && ! is_redirect && ! is_confirmation;var mt = parseInt(jQuery('html').css('margin-top'), 10) + parseInt(jQuery('body').css('margin-top'), 10) + 100;if(is_form){jQuery('#gform_wrapper_1').html(form_content.html());if(form_content.hasClass('gform_validation_error')){jQuery('#gform_wrapper_1').addClass('gform_validation_error');} else {jQuery('#gform_wrapper_1').removeClass('gform_validation_error');}setTimeout( function() { /* delay the scroll by 50 milliseconds to fix a bug in chrome */ }, 50 );if(window['gformInitDatepicker']) {gformInitDatepicker();}if(window['gformInitPriceFields']) {gformInitPriceFields();}var current_page = jQuery('#gform_source_page_number_1').val();gformInitSpinner( 1, 'https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/images/spinner.svg', true );jQuery(document).trigger('gform_page_loaded', [1, current_page]);window['gf_submitting_1'] = false;}else if(!is_redirect){var confirmation_content = jQuery(this).contents().find('.GF_AJAX_POSTBACK').html();if(!confirmation_content){confirmation_content = contents;}jQuery('#gform_wrapper_1').replaceWith(confirmation_content);jQuery(document).trigger('gform_confirmation_loaded', [1]);window['gf_submitting_1'] = false;wp.a11y.speak(jQuery('#gform_confirmation_message_1').text());}else{jQuery('#gform_1').append(contents);if(window['gformRedirect']) {gformRedirect();}}jQuery(document).trigger("gform_pre_post_render", [{ formId: "1", currentPage: "current_page", abort: function() { this.preventDefault(); } }]); if (event && event.defaultPrevented) { return; } const gformWrapperDiv = document.getElementById( "gform_wrapper_1" ); if ( gformWrapperDiv ) { const visibilitySpan = document.createElement( "span" ); visibilitySpan.id = "gform_visibility_test_1"; gformWrapperDiv.insertAdjacentElement( "afterend", visibilitySpan ); } const visibilityTestDiv = document.getElementById( "gform_visibility_test_1" ); let postRenderFired = false; function triggerPostRender() { if ( postRenderFired ) { return; } postRenderFired = true; jQuery( document ).trigger( 'gform_post_render', [1, current_page] ); gform.utils.trigger( { event: 'gform/postRender', native: false, data: { formId: 1, currentPage: current_page } } ); if ( visibilityTestDiv ) { visibilityTestDiv.parentNode.removeChild( visibilityTestDiv ); } } function debounce( func, wait, immediate ) { var timeout; return function() { var context = this, args = arguments; var later = function() { timeout = null; if ( !immediate ) func.apply( context, args ); }; var callNow = immediate && !timeout; clearTimeout( timeout ); timeout = setTimeout( later, wait ); if ( callNow ) func.apply( context, args ); }; } const debouncedTriggerPostRender = debounce( function() { triggerPostRender(); }, 200 ); if ( visibilityTestDiv && visibilityTestDiv.offsetParent === null ) { const observer = new MutationObserver( ( mutations ) => { mutations.forEach( ( mutation ) => { if ( mutation.type === 'attributes' && visibilityTestDiv.offsetParent !== null ) { debouncedTriggerPostRender(); observer.disconnect(); } }); }); observer.observe( document.body, { attributes: true, childList: false, subtree: true, attributeFilter: [ 'style', 'class' ], }); } else { triggerPostRender(); } } );} ); /* ]]> */ </script> </div> </div></div><script>if(window.location.search.indexOf('post_id')!=-1){ window.close();}jQuery(document).ready(function ($) { $('p').mashSelectionSharer();});</script>  <script type="text/html" id="wpls--tmpl"> <li class="search-result"> <a href="<%= post.link %>"> <div class="wpls--item-title-wrap"> <h4 class="wpls--item-title"><%= post.title %></h4> </div> </a> </li> </script> <script type="text/javascript"> /* MonsterInsights Scroll Tracking */ if ( typeof(jQuery) !== 'undefined' ) { jQuery( document ).ready(function(){ function monsterinsights_scroll_tracking_load() { if ( ( typeof(__gaTracker) !== 'undefined' && __gaTracker && __gaTracker.hasOwnProperty( "loaded" ) && __gaTracker.loaded == true ) || ( typeof(__gtagTracker) !== 'undefined' && __gtagTracker ) ) { (function(factory) { factory(jQuery); }(function($) { /* Scroll Depth */ "use strict"; var defaults = { percentage: true }; var $window = $(window), cache = [], scrollEventBound = false, lastPixelDepth = 0; /* * Plugin */ $.scrollDepth = function(options) { var startTime = +new Date(); options = $.extend({}, defaults, options); /* * Functions */ function sendEvent(action, label, scrollDistance, timing) { if ( 'undefined' === typeof MonsterInsightsObject || 'undefined' === typeof MonsterInsightsObject.sendEvent ) { return; } var paramName = action.toLowerCase(); var fieldsArray = { send_to: 'G-K4QTN4KM25', non_interaction: true }; fieldsArray[paramName] = label; if (arguments.length > 3) { fieldsArray.scroll_timing = timing MonsterInsightsObject.sendEvent('event', 'scroll_depth', fieldsArray); } else { MonsterInsightsObject.sendEvent('event', 'scroll_depth', fieldsArray); } } function calculateMarks(docHeight) { return { '25%' : parseInt(docHeight * 0.25, 10), '50%' : parseInt(docHeight * 0.50, 10), '75%' : parseInt(docHeight * 0.75, 10), /* Cushion to trigger 100% event in iOS */ '100%': docHeight - 5 }; } function checkMarks(marks, scrollDistance, timing) { /* Check each active mark */ $.each(marks, function(key, val) { if ( $.inArray(key, cache) === -1 && scrollDistance >= val ) { sendEvent('Percentage', key, scrollDistance, timing); cache.push(key); } }); } function rounded(scrollDistance) { /* Returns String */ return (Math.floor(scrollDistance/250) * 250).toString(); } function init() { bindScrollDepth(); } /* * Public Methods */ /* Reset Scroll Depth with the originally initialized options */ $.scrollDepth.reset = function() { cache = []; lastPixelDepth = 0; $window.off('scroll.scrollDepth'); bindScrollDepth(); }; /* Add DOM elements to be tracked */ $.scrollDepth.addElements = function(elems) { if (typeof elems == "undefined" || !$.isArray(elems)) { return; } $.merge(options.elements, elems); /* If scroll event has been unbound from window, rebind */ if (!scrollEventBound) { bindScrollDepth(); } }; /* Remove DOM elements currently tracked */ $.scrollDepth.removeElements = function(elems) { if (typeof elems == "undefined" || !$.isArray(elems)) { return; } $.each(elems, function(index, elem) { var inElementsArray = $.inArray(elem, options.elements); var inCacheArray = $.inArray(elem, cache); if (inElementsArray != -1) { options.elements.splice(inElementsArray, 1); } if (inCacheArray != -1) { cache.splice(inCacheArray, 1); } }); }; /* * Throttle function borrowed from: * Underscore.js 1.5.2 * http://underscorejs.org * (c) 2009-2013 Jeremy Ashkenas, DocumentCloud and Investigative Reporters & Editors * Underscore may be freely distributed under the MIT license. */ function throttle(func, wait) { var context, args, result; var timeout = null; var previous = 0; var later = function() { previous = new Date; timeout = null; result = func.apply(context, args); }; return function() { var now = new Date; if (!previous) previous = now; var remaining = wait - (now - previous); context = this; args = arguments; if (remaining <= 0) { clearTimeout(timeout); timeout = null; previous = now; result = func.apply(context, args); } else if (!timeout) { timeout = setTimeout(later, remaining); } return result; }; } /* * Scroll Event */ function bindScrollDepth() { scrollEventBound = true; $window.on('scroll.scrollDepth', throttle(function() { /* * We calculate document and window height on each scroll event to * account for dynamic DOM changes. */ var docHeight = $(document).height(), winHeight = window.innerHeight ? window.innerHeight : $window.height(), scrollDistance = $window.scrollTop() + winHeight, /* Recalculate percentage marks */ marks = calculateMarks(docHeight), /* Timing */ timing = +new Date - startTime; checkMarks(marks, scrollDistance, timing); }, 500)); } init(); }; /* UMD export */ return $.scrollDepth; })); jQuery.scrollDepth(); } else { setTimeout(monsterinsights_scroll_tracking_load, 200); } } monsterinsights_scroll_tracking_load(); }); } /* End MonsterInsights Scroll Tracking */ </script><script type="text/javascript" id="wpls-script-js-extra"> /* <![CDATA[ */ var wp_search_vars = {"helperText":"one more character","api":"https:\/\/admin.acceleratingscience.com\/wp-json\/as\/v1\/all-posts\/9"}; /* ]]> */ </script> <script type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/wp-search-live/public/assets/js/wp-live-search.js?ver=0.9" id="wpls-script-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog//wp-includes/js/comment-reply.min.js?ver=6.6.1" id="comment-reply-js" async="async" data-wp-strategy="async"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog//wp-includes/js/dist/dom-ready.min.js?ver=f77871ff7694fffea381" id="wp-dom-ready-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog//wp-includes/js/dist/hooks.min.js?ver=2810c76e705dd1a53b18" id="wp-hooks-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog//wp-includes/js/dist/i18n.min.js?ver=5e580eb46a90c2b997e6" id="wp-i18n-js"></script> <script type="text/javascript" id="wp-i18n-js-after"> /* <![CDATA[ */ wp.i18n.setLocaleData( { 'text direction\u0004ltr': [ 'ltr' ] } ); /* ]]> */ </script> <script type="text/javascript" src="https://www.thermofisher.com/blog//wp-includes/js/dist/a11y.min.js?ver=d90eebea464f6c09bfd5" id="wp-a11y-js"></script> <script type="text/javascript" defer='defer' src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/js/placeholders.jquery.min.js?ver=2.8.17" id="gform_placeholder-js"></script> <script type="text/javascript" defer='defer' src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/assets/js/dist/vendor-theme.min.js?ver=54e7080aa7a02c83aa61fae430b9d869" id="gform_gravityforms_theme_vendors-js"></script> <script type="text/javascript" id="gform_gravityforms_theme-js-extra"> /* <![CDATA[ */ var gform_theme_config = {"common":{"form":{"honeypot":{"version_hash":"4a792b070322e711c2521ee9802c04ea"}}},"hmr_dev":"","public_path":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/plugins\/gravityforms\/assets\/js\/dist\/"}; /* ]]> */ </script> <script type="text/javascript" defer='defer' src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/gravityforms/assets/js/dist/scripts-theme.min.js?ver=bab19fd84843dabc070e73326d787910" id="gform_gravityforms_theme-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog//wp-includes/js/jquery/ui/core.min.js?ver=1.13.3" id="jquery-ui-core-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog//wp-includes/js/jquery/ui/tabs.min.js?ver=1.13.3" id="jquery-ui-tabs-js"></script> <script type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/themes/accelerating-science-blogs/js/scripts.js?ver=1.2.9.3" id="scripts-js"></script> <script type="text/javascript" id="boxzilla-js-extra"> /* <![CDATA[ */ var boxzilla_options = {"testMode":"","boxes":[{"id":10626,"icon":"×","content":"","css":{"position":"bottom-right"},"trigger":{"method":"percentage","value":35},"animation":"fade","cookie":{"triggered":0,"dismissed":0},"rehide":false,"position":"bottom-right","screenWidthCondition":null,"closable":true,"post":{"id":10626,"title":"Single Call to Action","slug":"single-call-to-action"}}]}; /* ]]> */ </script> <script type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/boxzilla/assets/js/script.js?ver=3.3.1" id="boxzilla-js"></script> <script defer type="text/javascript" src="https://www.thermofisher.com/blog/behindthebench/wp-content/plugins/akismet/_inc/akismet-frontend.js?ver=1722950842" id="akismet-frontend-js"></script> <script type="text/javascript"> /* <![CDATA[ */ gform.initializeOnLoaded( function() { jQuery(document).on('gform_post_render', function(event, formId, currentPage){if(formId == 1) {gformInitChosenFields('#input_1_7,#input_1_8','No results matched');if(typeof Placeholders != 'undefined'){ Placeholders.enable(); }} } );jQuery(document).on('gform_post_conditional_logic', function(event, formId, fields, isInit){gformInitChosenFields('#input_1_7,#input_1_8','No results matched');} ) } ); /* ]]> */ </script> <script type="text/javascript"> /* <![CDATA[ */ gform.initializeOnLoaded( function() {jQuery(document).trigger("gform_pre_post_render", [{ formId: "1", currentPage: "1", abort: function() { this.preventDefault(); } }]); if (event && event.defaultPrevented) { return; } const gformWrapperDiv = document.getElementById( "gform_wrapper_1" ); if ( gformWrapperDiv ) { const visibilitySpan = document.createElement( "span" ); visibilitySpan.id = "gform_visibility_test_1"; gformWrapperDiv.insertAdjacentElement( "afterend", visibilitySpan ); } const visibilityTestDiv = document.getElementById( "gform_visibility_test_1" ); let postRenderFired = false; function triggerPostRender() { if ( postRenderFired ) { return; } postRenderFired = true; jQuery( document ).trigger( 'gform_post_render', [1, 1] ); gform.utils.trigger( { event: 'gform/postRender', native: false, data: { formId: 1, currentPage: 1 } } ); if ( visibilityTestDiv ) { visibilityTestDiv.parentNode.removeChild( visibilityTestDiv ); } } function debounce( func, wait, immediate ) { var timeout; return function() { var context = this, args = arguments; var later = function() { timeout = null; if ( !immediate ) func.apply( context, args ); }; var callNow = immediate && !timeout; clearTimeout( timeout ); timeout = setTimeout( later, wait ); if ( callNow ) func.apply( context, args ); }; } const debouncedTriggerPostRender = debounce( function() { triggerPostRender(); }, 200 ); if ( visibilityTestDiv && visibilityTestDiv.offsetParent === null ) { const observer = new MutationObserver( ( mutations ) => { mutations.forEach( ( mutation ) => { if ( mutation.type === 'attributes' && visibilityTestDiv.offsetParent !== null ) { debouncedTriggerPostRender(); observer.disconnect(); } }); }); observer.observe( document.body, { attributes: true, childList: false, subtree: true, attributeFilter: [ 'style', 'class' ], }); } else { triggerPostRender(); } } ); /* ]]> */ </script> <script type="text/javascript" src="/-JVF2Mt77XrPue0oWQ_DN-r_/XEYukNG8mrG8EimE/LFhk/MBsdTQN/rVQM"></script></body></html>