CINXE.COM
Forensic efficiency evaluation of a mtDNA whole genome sequencing system constructed with long fragment amplification strategy on DNA nanoball sequencing platform - Peeref
<!DOCTYPE html> <html lang="en"> <head> <link rel="dns-prefetch" href="//www.peeref.com"> <link rel="dns-prefetch" href="//peeref-open.s3.amazonaws.com"> <link rel="dns-prefetch" href="//www.w3.org"> <link rel="dns-prefetch" href="//doi.org"> <link rel="dns-prefetch" href="//www.linkedin.com"> <link rel="dns-prefetch" href="//twitter.com"> <link rel="dns-prefetch" href="//api.qrserver.com"> <link rel="dns-prefetch" href="//www.facebook.com"> <link rel="dns-prefetch" href="//www.googletagmanager.com"> <meta charset="utf-8"> <title>Forensic efficiency evaluation of a mtDNA whole genome sequencing system constructed with long fragment amplification strategy on DNA nanoball sequencing platform - Peeref</title> <meta http-equiv="X-UA-Compatible" content="IE=edge, chrome=1"> <meta name="keywords" content="manuscript, research article, comment, full text"> <meta name="description" content="Forensic efficiency evaluation of a mtDNA whole genome sequencing system constructed with long fragment amplification strategy on DNA nanoball sequencing platform"> <meta name="viewport" content="width=device-width, initial-scale=1.0"> <meta name="viewport" content="width=device-width, initial-scale=1.0, maximum-scale=1.0, user-scalable=no" /> <meta property="og:locale" content="en"> <meta property="og:title" content="Forensic efficiency evaluation of a mtDNA whole genome sequencing system constructed with long fragment amplification strategy on DNA nanoball sequencing platform - Peeref"> <meta property="og:description" content="Forensic efficiency evaluation of a mtDNA whole genome sequencing system constructed with long fragment amplification strategy on DNA nanoball sequencing platform"> <meta property="og:url" content="https://www.peeref.com/works/83547292"> <meta property="og:site_name" content="Peeref"> <meta property="og:image" content=""> <meta name="csrf-token" content="KBALfHuL9ZZkFUkpFZQ4zn2Gka1fgD00N7nza7qC"> <meta http-equiv="Cache-Control" content="no-transform" /> <meta http-equiv="Cache-Control" content="no-siteapp" /> <link rel="shortcut icon" href="https://www.peeref.com/favicon.ico"> <link href="https://peeref-open.s3.amazonaws.com/css/frameworks.bd380c8996823ba04442.css" rel="stylesheet"> <link href="https://peeref-open.s3.amazonaws.com/css/app.3cfd9992ceaf352e0491.css" rel="stylesheet"> <script> if(window.self !== window.top) { location.href = '/static/html/forbidden.html'; } </script> <script> window.Config = { token: "KBALfHuL9ZZkFUkpFZQ4zn2Gka1fgD00N7nza7qC", url: "https://www.peeref.com/works/83547292", lang: "en", prefix: "", isMobile: "", assetDomain: "https://peeref-open.s3.amazonaws.com/" }; </script> </head> <body> <div id="app"> <div class="bg-warning position-relative w-100 text-center py-2" style="top: 0; z-index: 100000;"> <strong class="text-danger">Peeref no longer supports Internet Explorer. </strong> <a href="/static/html/browser.html">Please upgrade your browser.</a> </div> <nav id="nav" class="navbar navbar-default navbar-static-top navbar-inverse"> <div class="container"> <div class="navbar-header"> <button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#app-navbar-collapse" aria-expanded="false"> <span class="icon-bar"></span> <span class="icon-bar"></span> <span class="icon-bar"></span> </button> <a class="navbar-brand p-3" href="https://www.peeref.com"> <svg xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" width="108px" viewBox="0 0 1052 302"><g fill="#FFF"><path d="M227.6,92.9c5.2,13,17.9,22.1,32.7,22.1c19.4,0,35.2-15.8,35.2-35.2s-15.8-35.2-35.2-35.2 c-19.4,0-35.2,15.8-35.2,35.2c0,2.3,0.2,4.5,0.6,6.7l-98.1,24.6L154,59c3.2,1.1,6.6,1.8,10.1,1.8c16.4,0,29.7-13.3,29.7-29.7c0-16.4-13.3-29.7-29.7-29.7s-29.7,13.3-29.7,29.7c0,10.5,5.4,19.7,13.6,25l-27.9,55.1L90.5,94.2c1.4-3.2,2.1-6.8,2.1-10.6 c0-14.9-12.1-27-27-27c-14.9,0-27,12.1-27,27c0,14.9,12.1,27,27,27c8.8,0,16.6-4.2,21.6-10.7l28.5,16.3l-62.2,49.9 c-5.6-5.3-13.1-8.6-21.4-8.6c-17.1,0-30.9,13.8-30.9,30.9c0,17.1,13.8,30.9,30.9,30.9S63,205.4,63,188.4c0-6.3-1.9-12.3-5.2-17.2 l60-48.1l-7.5,106.4c-19.1,0.6-34.4,16.2-34.4,35.5c0,19.6,15.9,35.5,35.5,35.5c19.6,0,35.5-15.9,35.5-35.5c0-17.7-13-32.4-30-35.1 l7.6-107.5l87,67.9c-4.1,6.1-6.4,13.5-6.4,21.4c0,21.4,17.4,38.8,38.8,38.8s38.8-17.4,38.8-38.8c0-21.4-17.4-38.8-38.8-38.8 c-11.1,0-21.2,4.7-28.2,12.2L129,117.6L227.6,92.9z"></path></g><g fill="#FFF"><path d="M368.2,232.3V70.6h52.4c19.9,0,32.8,0.8,38.8,2.4c9.3,2.4,17,7.7,23.3,15.8c6.2,8.1,9.4,18.6,9.4,31.5c0,9.9-1.8,18.3-5.4,25c-3.6,6.8-8.2,12.1-13.7,15.9c-5.6,3.9-11.2,6.4-16.9,7.7c-7.8,1.5-19.1,2.3-33.9,2.3h-21.3v61H368.2z M400.8,98v45.9h17.9c12.9,0,21.5-0.8,25.8-2.5c4.3-1.7,7.7-4.3,10.2-7.9c2.5-3.6,3.7-7.8,3.7-12.6c0-5.9-1.7-10.7-5.2-14.6c-3.5-3.8-7.8-6.2-13.1-7.2c-3.9-0.7-11.7-1.1-23.5-1.1H400.8z"></path><path d="M586.5,195l30.9,5.2c-4,11.3-10.2,19.9-18.8,25.9c-8.6,5.9-19.3,8.9-32.2,8.9c-20.4,0-35.4-6.7-45.2-20c-7.7-10.7-11.6-24.1-11.6-40.4c0-19.4,5.1-34.6,15.2-45.6c10.1-11,23-16.5,38.5-16.5c17.4,0,31.2,5.8,41.3,17.3c10.1,11.5,14.9,29.1,14.5,52.9h-77.7c0.2,9.2,2.7,16.3,7.5,21.5c4.8,5.1,10.7,7.7,17.9,7.7c4.9,0,8.9-1.3,12.2-4S584.8,200.9,586.5,195z M588.3,163.7c-0.2-9-2.5-15.8-6.9-20.5c-4.4-4.7-9.8-7-16.1-7c-6.8,0-12.4,2.5-16.8,7.4c-4.4,4.9-6.6,11.6-6.5,20.1H588.3z"></path><path d="M712.2,195l30.9,5.2c-4,11.3-10.2,19.9-18.8,25.9c-8.6,5.9-19.3,8.9-32.2,8.9c-20.4,0-35.4-6.7-45.2-20c-7.7-10.7-11.6-24.1-11.6-40.4c0-19.4,5.1-34.6,15.2-45.6c10.1-11,23-16.5,38.5-16.5c17.4,0,31.2,5.8,41.3,17.3c10.1,11.5,14.9,29.1,14.5,52.9H667c0.2,9.2,2.7,16.3,7.5,21.5c4.8,5.1,10.7,7.7,17.9,7.7c4.9,0,8.9-1.3,12.2-4S710.5,200.9,712.2,195z M713.9,163.7c-0.2-9-2.5-15.8-6.9-20.5c-4.4-4.7-9.8-7-16.1-7c-6.8,0-12.4,2.5-16.8,7.4c-4.4,4.9-6.6,11.6-6.5,20.1H713.9z"></path><path d="M799.6,232.3h-31V115.2h28.8v16.7c4.9-7.9,9.4-13.1,13.3-15.6c3.9-2.5,8.4-3.8,13.4-3.8c7.1,0,13.9,1.9,20.4,5.8l-9.6,27c-5.2-3.4-10.1-5.1-14.6-5.1c-4.3,0-8,1.2-11,3.6c-3,2.4-5.4,6.7-7.1,13c-1.7,6.3-2.6,19.3-2.6,39.3V232.3z"></path><path d="M925.7,195l30.9,5.2c-4,11.3-10.2,19.9-18.8,25.9c-8.6,5.9-19.3,8.9-32.2,8.9c-20.4,0-35.4-6.7-45.2-20c-7.7-10.7-11.6-24.1-11.6-40.4c0-19.4,5.1-34.6,15.2-45.6c10.1-11,23-16.5,38.5-16.5c17.4,0,31.2,5.8,41.3,17.3c10.1,11.5,14.9,29.1,14.5,52.9h-77.7c0.2,9.2,2.7,16.3,7.5,21.5c4.8,5.1,10.7,7.7,17.9,7.7c4.9,0,8.9-1.3,12.2-4S924,200.9,925.7,195z M927.5,163.7c-0.2-9-2.5-15.8-6.9-20.5c-4.4-4.7-9.8-7-16.1-7c-6.8,0-12.4,2.5-16.8,7.4c-4.4,4.9-6.6,11.6-6.5,20.1H927.5z"></path><path d="M970,115.2h17.2v-8.8c0-9.9,1-17.2,3.1-22.1c2.1-4.9,6-8.8,11.6-11.9c5.6-3.1,12.7-4.6,21.3-4.6c8.8,0,17.5,1.3,25.9,4l-4.2,21.6c-4.9-1.2-9.7-1.8-14.2-1.8c-4.5,0-7.7,1-9.7,3.1c-1.9,2.1-2.9,6.1-2.9,12.1v8.3h23.2v24.4h-23.2v92.8h-31v-92.8H970V115.2z"></path></g></svg> </a> </div> <ul class="collapse navbar-collapse mb-0" id="app-navbar-collapse"> <ul class="nav navbar-nav"> <li class="dropdown dropdown-hover"> <a href="javascript:">Publish <span class="caret"></span></a> <ul class="dropdown-menu dropdown-menu-inverse"> <li><a href="https://www.peeref.com/posters">Posters</a></li> <li><a href="https://www.peeref.com/abstracts">Abstracts</a></li> </ul> </li> <li class="dropdown dropdown-hover"> <a href="javascript:">Discuss <span class="caret"></span></a> <ul class="dropdown-menu dropdown-menu-inverse"> <li><a href="https://www.peeref.com/hubs">Hubs</a></li> <li><a href="https://www.peeref.com/questions">Questions</a></li> </ul> </li> <li><a href="https://www.peeref.com/works">Papers</a></li> <li><a href="https://www.peeref.com/webinars">Webinars</a></li> <li><a href="https://www.peeref.com/funding">Funding</a></li> <li class="dropdown dropdown-hover"> <a href="javascript:">Publishing Tools <span class="caret"></span></a> <ul class="dropdown-menu dropdown-menu-inverse"> <li><a href="https://www.peeref.com/journals">Journals</a></li> <li><a href="https://www.peeref.com/connect">Connect</a></li> <li><a href="https://www.peeref.com/e-collections">Collections</a></li> <li><a href="https://www.peeref.com/reviewer">Reviewers</a></li> </ul> </li> <li class="dropdown dropdown-hover"> <a href="javascript:">Events <span class="caret"></span></a> <ul class="dropdown-menu dropdown-menu-inverse"> <li><a href="https://www.peeref.com/poster-competition">Poster Challenger</a></li> <li><a href="https://www.peeref.com/webinar-competition">Video Presentation</a></li> <li><a href="https://www.peeref.com/artwork-competition">Art of Science</a></li> <li><a href="https://www.peeref.com/events/reviewer-roulette">Reviewer Roulette</a></li> </ul> </li> </ul> <ul id="auth-menu" class="nav navbar-nav navbar-right" style="display: inline-flex; align-items: center;"> <li> <a href="https://www.peeref.com/login"> <strong>My Account</strong> </a> </li> </ul> <ul class="nav navbar-nav navbar-right" style="display: inline-flex; align-items: center; margin-left: 20px;"> <li id="language" class="d-none d-xl-inline-flex"> <a href="javascript:"> <div class="current"> <i class="ivu-icon ivu-icon-md-globe"></i> EN </div> </a> <div class="selection"> <a rel="alternate" hreflang="en" href="https://www.peeref.com/works/83547292" > <span>English</span> </a> <a rel="alternate" hreflang="zh" href="https://www.peeref.com/zh/works/83547292" > <span>中文</span> </a> </div> </li> </ul> </ul> </div> </nav> <main> <div id="top-info-banner" class="container-fluid mb-0"> <div class="container"> <div class="d-flex align-items-center" style="margin-top: 30px;"> <span class="text-white"> <strong class="f18">☆</strong> <span class="f16">4.5</span> </span> <span class="mx-3"></span> <span class="tag">Article</span> </div> <h1 class="title title-for-article"> Forensic efficiency evaluation of a mtDNA whole genome sequencing system constructed with long fragment amplification strategy on DNA nanoball sequencing platform </h1> <div class="help-links-left"> <p class="pub-info"> FORENSIC SCIENCE INTERNATIONAL-GENETICS (2024) </p> </div> </div> </div> <div id="article-sticky-navbar"> <div class="container"> <div class="d-flex justify-content-between flex-wrap flex-md-nowrap"> <div class="d-flex align-items-center mb-2"> <ul class="nav nav-underline f16 font-weight-bold"> <li class="active"> <a href="javascript:;"> Overview </a> </li> <li class=""> <a href="https://www.peeref.com/works/83547292/comments"> Write a Review </a> </li> </ul> </div> <div class="d-flex align-items-center justify-content-md-end flex-wrap flex-md-nowrap"> <div class="mr-3 mt-3 mt-md-0 flex-shrink-0"> <a href="https://doi.org/10.1016/j.fsigen.2024.103126" target="_blank" class="btn btn-warning btn-circle"> <i class="ivu-icon ivu-icon-md-copy f16"></i> <strong>Get Full Text</strong> </a> </div> <div class="mr-3 mt-3 mt-md-0 flex-shrink-0"> <a href="https://www.peeref.com/works/83547292/add-to-collection" class="btn btn-success btn-circle"> <strong>Add to Collection</strong> </a> </div> <div class="mr-3 mt-3 mt-md-0 flex-shrink-0"> <button class="btn btn-success btn-circle" id="reading-btn"> <strong>Further Reading</strong> </button> </div> <div class="flex-shrink-0 mt-3 mt-md-0"> <div class="dropdown"> <button class="font-weight-bold f24 ivu-btn ivu-btn-default ivu-btn-circle ivu-btn-large ivu-btn-icon-only dropdown-toggle" data-toggle="dropdown"> <i class="ivu-icon ivu-icon-md-more"></i> </button> <ul class="dropdown-menu dropdown-menu-right"> <li> <a href="#" data-target="#export-citation" data-toggle="modal"> <i class="ivu-icon ivu-icon-md-quote text-muted mr-1"></i> Export Citation </a> </li> <li> <a href="#" data-target="#share-paper" data-toggle="modal"> <i class="ivu-icon ivu-icon-md-share-alt text-muted mr-1"></i> Share Paper </a> </li> <li> <a href="https://www.peeref.com/works/83547292/references"> <i class="ivu-icon ivu-icon-md-list text-muted mr-1"></i> References </a> </li> </ul> </div> </div> </div> </div> </div> </div> <div id="article-details" class="container"> <div class="col-md-4 px-0 pr-md-3"> <div class="f15 panel-box rounded shadow-none border"> <div class="mb-3 pb-3"> <h4 class="mt-0">Journal</h4> <div class="f16"> <h5 class="title f16"> <a href="https://www.peeref.com/journals/2908/forensic-science-international-genetics"> FORENSIC SCIENCE INTERNATIONAL-GENETICS </a> </h5> <span> Volume 73, Issue -, Pages - </span> </div> </div> <div class="mb-3 pb-3"> <h4 class="mt-0">Publisher</h4> <div class="f16"> <h5 class="title f16 text-primary"> ELSEVIER IRELAND LTD </h5> <div class="my-2"> DOI: 10.1016/j.fsigen.2024.103126 </div> </div> </div> <div class="mb-3 pb-3"> <h4 class="mt-0">Keywords</h4> <div class="f16"> Mitochondrial DNA whole genome sequencing; DNA nanoball sequencing platform; Heteroplasmy interpreting; Degradation sample </div> </div> <div class="mb-3 pb-3"> <h4 class="mt-0">Categories</h4> <div class="f16"> <span class="d-block"> <a href="https://www.peeref.com/works/list?category=Genetics+%26+Heredity" target="_blank" class="text-dark btn btn-link p-0 text-left"> Genetics & Heredity </a> </span> <span class="d-block"> <a href="https://www.peeref.com/works/list?category=Medicine%2C+Legal" target="_blank" class="text-dark btn btn-link p-0 text-left"> Medicine, Legal </a> </span> </div> </div> <div class="mb-3 pb-3"> <h4 class="mt-0">Funding</h4> <div class="f16"> <ol class=""> <li>National Natural Science Foundation of China (NSFC) [81930055]</li> <li>National Key R & D Program of China [2022YFC3302004]</li> </ol> </div> </div> </div> <div class="f15 panel-box rounded shadow-none border"> <h4 class="mt-0 text-center">Ask authors/readers for more resources</h4> <div class="requests"> <div class="requests-item"> <div class="icon"> <img src="https://peeref-open.s3.amazonaws.com/images/file.png" alt=""> </div> <h4>Protocol</h4> <p> <a href="https://www.peeref.com/works/83547292/resource" class="btn btn-outline-primary btn-sm"> Community support </a> </p> </div> <div class="requests-item"> <div class="icon"> <img src="https://peeref-open.s3.amazonaws.com/images/experiment.png" alt=""> </div> <h4>Reagent</h4> <p> <a href="https://www.peeref.com/works/83547292/resource" class="btn btn-outline-primary btn-sm"> Community support </a> </p> </div> </div> </div> </div> <div class="col-md-8 px-0 pl-md-3"> <div id="article-summary-panel" class="mb-4"> <ul class="nav nav-tabs" style="list-style: none; padding-left: 0;"> <li class="active"> <a href="#ai_summary" data-toggle="tab" class="summary-tab mx-0 f16 text-dark"> <strong>Automated Summary</strong> <strong class="text-danger ml-1"><i>New</i></strong> </a> </li> <li class=""> <a href="#raw_abstract" data-toggle="tab" class="abstract-tab mx-0 f16 text-dark"> <strong>Abstract</strong> </a> </li> </ul> <div class="tab-content border border-top-0"> <div id="ai_summary" class="tab-pane active"> <div class="summary-panel panel-box mb-0 rounded shadow-none"> <div class="f16">This study evaluated a novel mtDNA whole genome sequencing system using long fragment amplification strategy on the DNA nanoball sequencing platform. The system demonstrated high sequencing quality and specific mtDNA sequencing efficiencies on positive control DNA and FTA bloodstain samples. In addition, the system sequencing efficiency was also confirmed among different kinds of samples. In summary, the system showed high performance in analyzing mtDNA sequence information, and had great prospects in forensic application and maternal genetic research.</div> </div> </div> <div id="raw_abstract" class="tab-pane "> <div class="abstract-panel panel-box mb-0 rounded shadow-none"> <div class="f16">Mitochondrial DNA (mtDNA) is an important genetic marker for degraded biological sample identification, maternal pedigree tracing, and population genetic structure study owing to its characteristics of high copy number, anti-degradable ring structure, and maternal inheritance. Whole mtDNA genome sequencing is an optimal method for the analysis of mtDNA polymorphism and heterogeneity because it allows for the comprehensive use of maternal genetic information. However, because of lacking quantitative evaluations for sequencing data, the scientific interpretation standards for mtDNA sequencing results of the previously used sequencing systems are often different, and false positive or false negative results are prone to occur when faced with the interference of nuclear genomic DNA, or the heterogeneities of mtDNA sequence and structure. In this study, we evaluated a novel mtDNA whole genome sequencing system using long fragment amplification strategy on the DNA nanoball (DNB) sequencing platform. This system demonstrated high sequencing quality and specific mtDNA sequencing efficiencies on positive control DNA and FTA bloodstain samples, as the average Q20 and Q30 values of the corresponding samples were 97.17 % and 91.93 %; 97.37 % and 92.48 %, respectively. The mean mapping percentages for the reference sequences of whole genome DNA (wgDNA), mtDNA, and nuclear genomic DNA (ngDNA) in the corresponding samples were 99.98 %, 99.97 %, 0.03 %, and 99.91 %, 99.40 %, 0.60 %; respectively. The average error calling rates for the bases A, C, G, and T of the whole mtDNA genome were 0.2519 %, 0.2550 %, 0.2906 %; and 0.2392 %, respectively. The efficacy of heteroplasmy identification was assessed using a set of theoretical sites with predetermined rates. These sites were created by combining the samples with known mtDNA haplotypes in certain proportions. The absolute errors between observed and theoretical heteroplasmy values were 89.59 %, 74.68 %, 50.20 %, 12.65 %, 8.31 %, and 4.85 %, while the theoretical heteroplasmy values were 5 %, 10 %, 20 %, 80 %, 90 %, and 95 %, respectively. The absolute error exhibited relative stability when the mtDNA sequencing depth exceeded 500x. Furthermore, the system sequencing efficiency was also confirmed among different kinds of samples, and these samples included natural samples (e.g., peripheral blood samples preserved on FTA cards for 2 and 11 years, and on filter paper for 6 and 9 years), degraded samples, sensitivity samples, samples derived from various bodily fluids, and maternal pedigree samples. In summary, the whole mtDNA genome sequencing system used for forensic identification demonstrated high performance in analyzing mtDNA sequence information, and showed significant prospects for forensic application and maternal genetic research.</div> </div> </div> </div> </div> <div class="f15 panel-box rounded shadow-none border"> <h4 class="mt-0 heading-count">Authors</h4> <div class="mb-3"> <article-authors tid="83547292" list="[{"name":"Man Chen","sequence":1},{"name":"Chong Chen","sequence":2},{"name":"Ning Li","sequence":3},{"name":"Yuerong Su","sequence":4},{"name":"Wei Cui","sequence":5},{"name":"Yan Huang","sequence":6},{"name":"Meiming Cai","sequence":7},{"name":"Bofeng Zhu","sequence":8}]" verified="[]" page="work" ></article-authors> </div> <div class="alert alert-warning mb-0"> <h5 class="mt-0 bg-warning text-dark px-3 rounded d-inline-block"> I am an author on this paper </h5> <div class="font-weight-bold f13"> Click your name to claim this paper and add it to your profile. </div> </div> </div> <div class="f15 panel-box rounded shadow-none border"> <h4 class="mt-0 heading-count">Reviews</h4> <div class="d-flex flex-wrap flex-md-nowrap"> <div class="flex-grow-1"> <h4 class="f16"> Primary Rating <a href="javascript:;" data-toggle="tooltip" data-placement="right" title="The primary rating indicates the level of overall quality for the paper."> <i class="ivu-icon ivu-icon-md-help-circle f18 ml-2"></i> </a> </h4> <div class="d-flex flex-wrap flex-md-nowrap align-items-center alert mb-0"> <div class="d-flex align-items-center justify-content-center"> <Rate disabled allow-half value="4.5" style="font-size: 28px;"></Rate> <strong class="f20 m-3" style="color: #f5a623;">4.5</strong> </div> <div class="text-muted mx-4"> Not enough ratings </div> </div> <h4 class="f16"> Secondary Ratings <a href="javascript:;" data-toggle="tooltip" data-placement="right" title="Secondary ratings independently reflect strengths or weaknesses of the paper."> <i class="ivu-icon ivu-icon-md-help-circle f18 ml-2"></i> </a> </h4> <div class="d-flex flex-wrap flex-md-nowrap alert"> <div class="d-flex flex-shrink-0 align-items-center mr-3"> <h5 class="my-0">Novelty</h5> <strong class="mx-4">-</strong> </div> <div class="d-flex flex-shrink-0 align-items-center mr-3"> <h5 class="my-0">Significance</h5> <strong class="mx-4">-</strong> </div> <div class="d-flex flex-shrink-0 align-items-center mr-3"> <h5 class="my-0">Scientific rigor</h5> <strong class="mx-4">-</strong> </div> </div> </div> <div class="flex-shrink-0"> <div class="border bg-light py-2 px-4"> <h5 class="mb-1">Rate this paper</h5> <Rate class="f24" @on-change="function(value){ location.href='https://www.peeref.com/works/83547292/comments?rating='+value }"></Rate> </div> </div> </div> </div> <div id="collection" class="f15 panel-box rounded shadow-none border"> <h4 class="mt-0 heading-count">Recommended</h4> <div class="my-3"> <ul class="nav nav-pills border-bottom pb-3" style="list-style: none; padding-left: 0;"> <li class="active"> <a href="#articles_from_related" data-toggle="tab" class="mx-0 f15"> <strong>Related</strong> </a> </li> <li class=""> <a href="#articles_from_authors" data-toggle="tab" class="mx-0 f15"> <strong>From Same Authors</strong> </a> </li> <li class=""> <a href="#articles_from_journal" data-toggle="tab" class="mx-0 f15"> <strong>From Same Journal</strong> </a> </li> </ul> <div class="tab-content"> <div id="articles_from_related" class="tab-pane active"> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biochemistry & Molecular Biology </span> </div> <h4> <a href="https://www.peeref.com/works/24652412" class="text-dark hover-underline">The Value of Whole-Genome Sequencing for Mitochondrial DNA Population Studies: Strategies and Criteria for Extracting High-Quality Mitogenome Haplotypes</a> </h4> <p class="text-ellipsis-2">Kimberly Sturk-Andreaggi, Joseph D. Ring, Adam Ameur, Ulf Gyllensten, Martin Bodner, Walther Parson, Charla Marshall, Marie Allen</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/3812.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> Whole-genome sequencing data can be utilized for genetics research, including population studies. However, the reconstruction of mitochondrial genome can be complicated by nuclear mitochondrial DNA segments. This study assessed the ability to produce authentic mitochondrial genome haplotypes from WGS data and found that a 10% variant detection threshold may be necessary to ensure reliability. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES</span> (2022) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/24652412/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/27758119" class="text-dark hover-underline">Whole Mitochondrial Genome Detection and Analysis of Two- to Four-Generation Maternal Pedigrees Using a New Massively Parallel Sequencing Panel</a> </h4> <p class="text-ellipsis-2">Dan Peng, Jiaojiao Geng, Jingyi Yang, Jiajun Liu, Nana Wang, Riga Wu, Hongyu Sun</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/9770.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> The ForenSeq mtDNA Whole Genome Kit was used to detect the mtGenome in blood samples and hair shafts of 33 individuals, and high-quality sequencing results were obtained. Ten unique mtGenome haplotypes were observed, and 26 point heteroplasmy (PHP) and 11 length heteroplasmy (LHP) variations were evaluated. The study demonstrates the effective capability of the ForenSeq mtDNA Whole Genome Kit in generating complete mtGenome and highlights the complexity of mtDNA haplotype comparisons when considering heteroplasmy. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">GENES</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/27758119/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biotechnology & Applied Microbiology </span> </div> <h4> <a href="https://www.peeref.com/works/27217652" class="text-dark hover-underline">A pipeline for sample tagging of whole genome bisulfite sequencing data using genotypes of whole genome sequencing</a> </h4> <p class="text-ellipsis-2">Zhe Xu, Si Cheng, Xin Qiu, Xiaoqi Wang, Qiuwen Hu, Yanfeng Shi, Yang Liu, Jinxi Lin, Jichao Tian, Yongfei Peng, Yong Jiang, Yadong Yang, Jianwei Ye, Yilong Wang, Xia Meng, Zixiao Li, Hao Li, Yongjun Wang</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/1255.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study constructed an optimized pipeline and identified applicable fingerprint panels to address the sample tagging problem in whole genome bisulfite sequencing (WGBS) data. By using autosome-wide A/T polymorphic single nucleotide variants (SNVs), a fingerprint panel was designed and genotypes were called from the WGBS data. The capability to tag WGBS data was validated and the lower boundary for the number of fingerprint genetic variants needed for correct sample tagging was determined. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">BMC GENOMICS</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/27217652/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Multidisciplinary Sciences </span> </div> <h4> <a href="https://www.peeref.com/works/23913605" class="text-dark hover-underline">In vivo mitochondrial base editing via adeno-associated viral delivery to mouse post-mitotic tissue</a> </h4> <p class="text-ellipsis-2">Pedro Silva-Pinheiro, Pavel A. Nash, Lindsey Van Haute, Christian D. Mutti, Keira Turner, Michal Minczuk</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/8411.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> Mutations in mitochondrial DNA can lead to clinically heterogeneous diseases. Here the authors demonstrate in vivo base editing of mouse mitochondrial DNA in a post-mitotic tissue by AAV delivery of DddA-derived cytosine base editor (DdCBE). </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">NATURE COMMUNICATIONS</span> (2022) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/23913605/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biochemical Research Methods </span> </div> <h4> <a href="https://www.peeref.com/works/83769376" class="text-dark hover-underline">Assessment of DNA quality for whole genome library preparation</a> </h4> <p class="text-ellipsis-2">Linda Jansson, Siri Aili Fagerholm, Emelie Borken, Arvid Heden Gynna, Maja Sidstedt, Christina Forsberg, Ricky Ansell, Johannes Hedman, Andreas Tillmar</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/517.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study developed and evaluated methods for estimating DNA strandness and fragmentation levels, and applied them to various DNA samples. The findings show that both the DNA extraction method and the sample type affect DNA strandness and fragmentation, which is significant for future genotyping studies. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">ANALYTICAL BIOCHEMISTRY</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83769376/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biology </span> </div> <h4> <a href="https://www.peeref.com/works/26929333" class="text-dark hover-underline">Mito-SiPE is a sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing</a> </h4> <p class="text-ellipsis-2">Darren J. Walsh, David J. Bernard, Faith Pangilinan, Madison Esposito, Denise Harold, Anne Parle-McDermott, Lawrence C. Brody</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/10930.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> The analysis of somatic variation in the mitochondrial genome requires deep sequencing of mitochondrial DNA. This study presents a PCR-free method for ultra-deep sequencing coverage of the mitochondrial genome, using isolated intact mitochondria and a sequence-independent approach. The method avoids false-heteroplasmy calls caused by long-range PCR amplification and enables researchers to identify low frequency heteroplasmy without introducing PCR biases or NUMT contamination. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">COMMUNICATIONS BIOLOGY</span> (2022) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/26929333/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Gastroenterology & Hepatology </span> </div> <h4> <a href="https://www.peeref.com/works/84195562" class="text-dark hover-underline">Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome</a> </h4> <p class="text-ellipsis-2">Yoshihito Kishita, Ayumu Sugiura, Nanako Omichi, Masaru Shimura, Yukiko Yatsuka, Kohta Nakamura, Toju Tanaka, Mitsuru Kubota, Kei Murayama, Akira Ohtake, Yasushi Okazaki</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/5595.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This case report identified a variant of the MICOS10 gene associated with mitochondrial hepatopathy and mitochondrial DNA depletion. The loss of MIC10 at the protein level in the patient's fibroblasts led to impaired mitochondrial oxygen consumption. Overexpression of MICOS10 restored these conditions. The conclusion is that MICOS10 is a causative gene for hepatopathy and neuropathy, similar to the disease associated with MICOS13. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">LIVER INTERNATIONAL</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84195562/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Review </span> <span class="d-inline-block badge badge-cyan"> Chemistry, Physical </span> </div> <h4> <a href="https://www.peeref.com/works/82994284" class="text-dark hover-underline">Recent Innovations and Technical Advances in High-Throughput Parallel Single-Cell Whole-Genome Sequencing Methods</a> </h4> <p class="text-ellipsis-2">Yi Qiao, Tianguang Cheng, Zikun Miao, Yue Cui, Jing Tu</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/10856.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This article introduces the application of single-cell whole-genome sequencing technology in detecting cell heterogeneity, as well as the development and technological progress of high-throughput single-cell sequencing methods. The article also discusses the application of this technology in human genome research, and summarizes the experimental innovations, challenges, and prospects. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">SMALL METHODS</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/82994284/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Clinical Neurology </span> </div> <h4> <a href="https://www.peeref.com/works/26675005" class="text-dark hover-underline">Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis</a> </h4> <p class="text-ellipsis-2">Ryan L. Davis, Kishore R. Kumar, Eloise C. Watson, Carolyn M. Sue</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/6162.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> We strongly agree that alpha-methylacyl-CoA racemase (AMACR) deficiency should be considered in patients with combinations of stroke-like episodes, seizures, encephalopathy, and retinal pigmentary changes. Our study and other case reports highlight the importance of a comprehensive sequencing approach to identify mitochondrial disease phenocopies. Such phenocopies include individuals with causative AMACR variants, as well as those from other studies and projects. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">NEUROLOGY</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/26675005/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Multidisciplinary Sciences </span> </div> <h4> <a href="https://www.peeref.com/works/83860602" class="text-dark hover-underline">Quantifying constraint in the human mitochondrial genome</a> </h4> <p class="text-ellipsis-2">Nicole J. Lake, Kaiyue Ma, Wei Liu, Stephanie L. Battle, Kristen M. Laricchia, Grace Tiao, Daniela Puiu, Kenneth K. Ng, Justin Cohen, Alison G. Compton, Shannon Cowie, John Christodoulou, David R. Thorburn, Hongyu Zhao, Dan E. Arking, Shamil R. Sunyaev, Monkol Lek</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/6054.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This article introduces the important role of mitochondrial DNA in health and disease, and the application of the developed mitochondrial genome constraint model in the gnomAD dataset. By comparing the observed variation with the expected neutral variation, a strong depletion of expected variation was revealed, indicating that many deleterious mtDNA variants remain undetected. Constraint metrics were calculated for each mitochondrial gene, further characterizing the most constrained regions within genes, and identify the most constrained sites within the entire mitochondrial genome, showing enrichment of pathogenic variation. Constraint also clustered in three-dimensional structures, providing insights into functionally important domains and their disease relevance. Finally, it was demonstrated that these metrics can improve the ability to discover deleterious variations. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">NATURE</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83860602/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biochemistry & Molecular Biology </span> </div> <h4> <a href="https://www.peeref.com/works/25016028" class="text-dark hover-underline">NRF2 Alters Mitochondrial Gene Expression in Neonate Mice Exposed to Hyperoxia</a> </h4> <p class="text-ellipsis-2">Heather L. Vellers, Hye-Youn Cho, Wesley Gladwell, Kevin Gerrish, Janine H. Santos, Gaston Ofman, Laura Miller-DeGraff, T. Beth Mahler, Steven R. Kleeberger</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/10625.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> In this study, the role of NRF2 in lung mitochondrial genomic features was investigated in mice. The findings showed that Nrf2 deficiency resulted in decreased mtDNA copies in the embryonic lungs and higher heteroplasmy frequency at E18.5. Additionally, exposure to hyperoxia led to increased expression of mitochondria-encoded genes regulating oxidative phosphorylation. These results highlight the potential importance of NRF2 in modulating mitochondrial function in response to oxidative stress. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">ANTIOXIDANTS</span> (2022) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/25016028/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biochemistry & Molecular Biology </span> </div> <h4> <a href="https://www.peeref.com/works/33348689" class="text-dark hover-underline">Benchmarking of Nanopore R10.4 and R9.4.1 flow cells in single-cell whole-genome amplification and whole-genome shotgun sequencing</a> </h4> <p class="text-ellipsis-2">Ying Ni, Xudong Liu, Zemenu Mengistie Simeneh, Mengsu Yang, Runsheng Li</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/10376.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study evaluates the application of the recently released R10.4 flow cell from Oxford Nanopore Technologies in human cancer genomics and epigenomic research. The results show that R10.4 performs better than R9.4.1 in terms of read accuracy, variant detection, methylation calling, and genome recovery rate. In addition, the study proposes a promising method for high-yield single-cell whole-genome amplification sequencing and provides a possible solution for filtering false positive sites using R10.4 data. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/33348689/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biochemistry & Molecular Biology </span> </div> <h4> <a href="https://www.peeref.com/works/26659254" class="text-dark hover-underline">Single-molecule Sequencing of an Animal Mitochondrial Genome Reveals Chloroplast-like Architecture and Repeat-mediated Recombination</a> </h4> <p class="text-ellipsis-2">Joel Sharbrough, Laura Bankers, Emily Cook, Peter D. Fields, Joseph Jalinsky, Kyle E. McElroy, Maurine Neiman, John M. Logsdon, Jeffrey L. Boore</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/5941.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> Recent advances in long-read sequencing technology have allowed for direct investigation of mitochondrial genome architecture and recombination. Using PacBio sequencing, mitochondrial genomes of two species of New Zealand freshwater snails were reassembled, revealing a previously undetected structure and evidence of recombination. These findings raise questions about the origins and commonness of inverted repeats in cytoplasmic genomes and their role in mitochondrial genome evolution. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">MOLECULAR BIOLOGY AND EVOLUTION</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/26659254/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Multidisciplinary Sciences </span> </div> <h4> <a href="https://www.peeref.com/works/24826194" class="text-dark hover-underline">Advanced age increases frequencies of de novo mitochondrial mutations in macaque oocytes and somatic tissues</a> </h4> <p class="text-ellipsis-2">Barbara Arbeithuber, Marzia A. Cremona, James Hester, Alison Barrett, Bonnie Higgins, Kate Anthony, Francesca Chiaromonte, Francisco J. Diaz, Kateryna D. Makova</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/6895.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> Duplex sequencing technology reveals the accumulation of mtDNA mutations in somatic tissues and germline cells of primates as they age. The frequency of these mutations significantly increases in liver and muscle tissues with age, while it stabilizes in oocytes of older animals after 9 years of age. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA</span> (2022) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/24826194/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 "> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Clinical Neurology </span> </div> <h4> <a href="https://www.peeref.com/works/26675218" class="text-dark hover-underline">Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis</a> </h4> <p class="text-ellipsis-2">Katherine Schon, Patrick Chinnery</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/6162.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> In this study, a genomics first approach was applied to 242 adult patients, resulting in the identification of 3 patients from 2 families with an adult-onset peroxisomal disorder, alpha-methylacyl-CoA racemase deficiency. This condition had previously been identified in 3 families with suspected mitochondrial disorders in the 100,000 Genomes Project, as well as in 1 patient in a whole-exome sequencing study by Theunissen et al. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">NEUROLOGY</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/26675218/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> </div> <div id="articles_from_authors" class="tab-pane "> <div class="nodata my-4">No Data Available</div> </div> <div id="articles_from_journal" class="tab-pane "> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83039808" class="text-dark hover-underline">Application of a newly constructed NGS panel with 45 X-linked microhaplotypes demonstrates the unique value of X-MH for kinship testing and mixture analysis</a> </h4> <p class="text-ellipsis-2">Guanju Ma, Kailiang Liu, Chaolong Lu, Qingqing Du, Mengjie Zhang, Qian Wang, Guangping Fu, Junyan Wang, Chunling Ma, Bin Cong, Shujin Li, Lihong Fu</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study screened 63 X-MHs, evaluated their performance, and calculated population parameters. The panel performed well in personal identification and paternity testing, and showed unique advantages in complex kinship and male DNA mixture analyses. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83039808/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84361787" class="text-dark hover-underline">CRISPR-Cas technology in forensic investigations: Principles, applications, and ethical considerations</a> </h4> <p class="text-ellipsis-2">Ana Filipa Sobral, Ricardo Jorge Dinis-Oliveira, Daniel Jose Barbosa</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> CRISPR-Cas systems are adaptive immune systems in bacteria, and CRISPR-Cas-based technologies can be used for precise genome editing. Forensic science is used to investigate and solve legal issues, and CRISPR-Cas-based methods have potential applications in the field of forensic science, but also raise ethical concerns and potential abuse of personal genetic information. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84361787/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83532016" class="text-dark hover-underline">Dense SNP-based analyses complement forensic anthropology biogeographical ancestry assessments</a> </h4> <p class="text-ellipsis-2">Sammed N. Mandape, Bruce Budowle, Heather McKiernan, Donia Slack, Sarah Mittelman, Kristen Mittelman, David Mittelman</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> Forensic anthropological examinations can estimate the ancestry of human remains, but they have limitations. Genome-wide SNP testing provides a more accurate method for ancestry estimation. The study found inconsistencies between anthropological and genomic ancestry estimates, especially for admixed populations. Further validation studies and policy improvements are crucial for improving the accuracy of ancestry estimation and reducing misinformation. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83532016/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83533129" class="text-dark hover-underline">Shotgun DNA sequencing for human identification: Dynamic SNP selection and likelihood ratio calculations accounting for errors</a> </h4> <p class="text-ellipsis-2">Mikkel Meyer Andersen, Marie-Louise Kampmann, Alberte Honore Jepsen, Niels Morling, Poul Svante Eriksen, Claus Bursting, Jeppe Dyrberg Andersen</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This paper presents a statistical model for human identification using shotgun sequencing data, which takes into account the sequencing error rate and can be applied to highly degraded low-quality DNA samples. An open-source R package, wgsLR, is also introduced for implementing the method. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83533129/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84342778" class="text-dark hover-underline">SMART: STR Mixture Analysis and Resolution Tools</a> </h4> <p class="text-ellipsis-2">Xianchao Ji, Lianjiang Chi, Lan Wu Chen, Jianchao Chen, Anxin Yan, Yongjiu Li, Zheng Tu, Jian Ye, Hua Chen</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This article presents SMART, a software for analyzing STR mixture profiles developed within the fully continuous model framework. SMART integrates multiple models and offers various functions, such as likelihood ratio calculation, genotype resolution, and database search. Its performance was evaluated using laboratory samples and the PROVEDIt dataset, showing high sensitivity, specificity, and precision, as well as computational efficiency. SMART is expected to be a valuable tool in forensic investigations, improving the accuracy and reliability of criminal justice outcomes. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84342778/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83225861" class="text-dark hover-underline">Profiling age and body fluid DNA methylation markers using nanopore adaptive sampling</a> </h4> <p class="text-ellipsis-2">Zaka Wing-Sze Yuen, Somasundhari Shanmuganandam, Maurice Stanley, Simon Jiang, Nadine Hein, Runa Daniel, Dennis McNevin, Cameron Jack, Eduardo Eyras</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> DNA methylation plays a crucial role in physiological processes and can be used as a biomarker for body fluid identification and age prediction. Current methylation detection methods rely on various techniques and markers, requiring specialized DNA preparation and biochemical treatments. This study used nanopore adaptive sampling technology to simultaneously identify age-associated and body fluid-specific methylation markers without the need for specialized DNA preparation or biochemical treatments. The technology was consistent with whole-genome bisulfite sequencing data and identified new sites strongly correlated with age. This study lays the foundation for the development of nanopore-based methods for age prediction and body fluid identification. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83225861/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83599477" class="text-dark hover-underline">The role of cats in human DNA transfer</a> </h4> <p class="text-ellipsis-2">Heidi Monkman, Roland A. H. van Oorschot, Mariya Goray</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study investigated whether cats are reservoirs and vectors for human DNA transfer. The results showed that human DNA was prevalent on all cats, and its distribution followed a certain pattern. In addition, short-term patting contact could lead to the transfer of human DNA to cats. These findings suggest that we should consider the role of animals in DNA reporting and collect DNA evidence from animals in cases involving interactions between animals and perpetrators. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83599477/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84866026" class="text-dark hover-underline">Uncovering genetic signatures of the Walser migration in the Alps: Patterns of diversity and differentiation</a> </h4> <p class="text-ellipsis-2">Peter Resutik, Joelle Schneider, Simon Aeschbacher, Magnus Dehli Vigeland, Mario Gysi, Corinne Moser, Chiara Barbieri, Paul Widmer, Mathias Currat, Adelgunde Kratzer, Michael Kruetzen, Cordula Haas, Natasha Arora</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study investigated the genetic diversity and differentiation of the Walser people. By comparing samples from Walser, Walser-homeland, and non-Walser Alpine communities, as well as an idealized Swiss reference population, it was found that Walser-homeland and Walser communities showed low to moderate genetic differentiation from other communities, with more remote communities showing stronger differentiation. Additionally, the rare haplogroup W6 was identified in the Walser communities. This study contributes to understanding the genetic characteristics of the Walser people, but also highlights the need for more comprehensive research. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84866026/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84265916" class="text-dark hover-underline">Towards the identification of body fluids using RT-LAMP isothermal amplification coupled with CRISPR-Cas12a</a> </h4> <p class="text-ellipsis-2">Courtney R. H. Lynch, Olivia L. Martin, Craig Billington, Rachel Fleming</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This paper describes a new technique for the detection of body fluids that combines RT-LAMP amplification with CRISPR-mediated fluorescent detection to rapidly detect mRNA markers in body fluids at a single temperature. The technique has high sensitivity and specificity and can be used for body fluid identification in forensic screening laboratories. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84265916/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83112863" class="text-dark hover-underline">Improved individual identification in DNA mixtures of unrelated or related contributors through massively parallel sequencing</a> </h4> <p class="text-ellipsis-2">Zhiyong Liu, Enlin Wu, Ran Li, Jiajun Liu, Yu Zang, Bin Cong, Riga Wu, Bo Xie, Hongyu Sun</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study evaluated the impact of potential kinship on individual identification, including MPS performance, the influence of genetic markers on kinship and NOC inference, the probability distribution of MAC and TAC, trends in LR values, and comparisons of length- and sequence-based STR genotypes. Results showed that multiple genetic markers improved the accuracy of kinship and NOC inference, the LR value of the POI depended on the mixing ratio, and the correct kinship hypothesis yielded more conservative LR values. In addition, using sequence-based STR genotypes increased the power of individual identification and the accuracy of mixture ratio inference. The MGIEasy Signature Identification Library Prep kit demonstrated robust individual identification capabilities and is suitable for forensic DNA mixture interpretation. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83112863/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83911917" class="text-dark hover-underline">A preliminary study on detecting human DNA in aquatic environments: Potential of eDNA in forensics</a> </h4> <p class="text-ellipsis-2">Marie Antony Dass, Craig D. H. Sherman, Roland A. H. van Oorschot, Dadna Hartman, Gemma Carter, Annalisa Durdle</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study investigated the detection and degradation rates of human eDNA in saltwater and freshwater samples, as well as the recovery of STR profiles and mtDNA sequencing. Results showed that human eDNA could be detected for up to 36-84 hours in water samples, with a detection limit of 205 copies/μl. Partial STR profiles could be recovered within 24 hours, and full mtDNA profiles could be recovered from freshwater samples within 48 hours and remained detectable for up to 72 hours in saltwater. This study emphasizes the importance of considering and incorporating human eDNA analysis in forensic practice. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83911917/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84482295" class="text-dark hover-underline">Benchmarking for genotyping and imputation using degraded DNA for forensic applications across diverse populations</a> </h4> <p class="text-ellipsis-2">Elena I. Zavala, Rori V. Rohlfs, Priya Moorjani</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study investigated computational methods for handling degraded DNA in forensic applications. By simulating sequencing data of varying qualities, the performance of common genotyping and imputation methods was tested on different SNP panels. The results showed that parameters and methods developed for ancient DNA analysis performed better in degraded DNA analysis. Additionally, using a population reference panel representative of worldwide populations improved genotyping accuracy, but the low SNP density of commonly used forensic SNP panels could impact the reliability of the analysis. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84482295/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84819293" class="text-dark hover-underline">The (in)dependence of single-cell data inferences on model constructs</a> </h4> <p class="text-ellipsis-2">Catherine M. Grgicak, Klaas Slooten, Robert G. Cowell, Qhawe Bhembe, Desmond S. Lun</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> Single-cell analysis is important in forensics, but different models may interpret the data differently. This study compared the weight of evidence on single-cell electropherograms among three models and found that they were mostly consistent, but there were some differences in some cases. The study also found that extreme stuttering was the main cause of the differences and proposed some interpretive adaptations to improve the situation. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84819293/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84919066" class="text-dark hover-underline">Independent evaluation of an 11-CpG panel for age estimation in blood</a> </h4> <p class="text-ellipsis-2">Mie Rath Refn, Marie-Louise Kampmann, Agnes Vyoni, Jacob Tfelt-Hansen, Erik Sorensen, Sisse Rye Ostrowski, Mette Kongstad, Anastasia Aliferi, Federica Giangasparo, Niels Morling, David Ballard, Claus Borsting, Vania Pereira</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study evaluated the 11-CpG panel for age estimation and optimized it. The optimized panel was used to type Danish blood samples, and the results showed that DNA methylation at the 11 CpG loci was significantly correlated with age. A Danish age prediction model was constructed and compared with the original model, and the results were similar, but the original model had a bias towards underestimation, while the new model did not. The assay can reasonably accurately estimate the age of a single-source donor. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84919066/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 "> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84044753" class="text-dark hover-underline">TigerBase: A DNA registration system to enhance enforcement and compliance testing of captive tiger facilities</a> </h4> <p class="text-ellipsis-2">Kyle M. Ewart, Frankie T. Sitam, Nur Alizati Nabila Binti Giarat Ali, Rob Ogden, Kelly I. Morgan, Hieu M. Tran, Thanh P. T. Bui, Truong Q. Nguyen, Son G. Nguyen, Norsyamimi Rosli, Kitichaya Penchart, Kanita Ouitavon, Ross McEwing</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> TigerBase is a standardized wildlife forensic DNA profiling system for captive tigers, consisting of 60 SNP markers, including autosomal nuclear markers, sex-linked markers, and mtDNA markers. The system has been developed and validated in four South-East Asian countries and is recognized as a key tool for monitoring the compliance of captive facilities, supporting tiger trade investigations, and improving prosecution outcomes. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84044753/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="modal fade" id="export-citation" tabindex="-1"> <div class="modal-dialog"> <div class="modal-content"> <div class="modal-header"> <button type="button" class="close" data-dismiss="modal"><span>×</span></button> <h4 class="modal-title">Export Citation <b class="text-primary"></b></h4> </div> <div class="modal-body"> <div class="my-3 px-4 f16"> <form action="https://www.peeref.com/works/citation/download" method="GET" target="_blank"> <div class="radio"> <label> <input type="radio" name="fileType" value="PlainText" checked> <strong>Plain Text</strong> </label> </div> <div class="radio"> <label> <input type="radio" name="fileType" value="RIS"> <strong>RIS</strong> <span>- Export format compatible with most major reference management software such as Endnote and Zotero</span> </label> </div> <div class="radio"> <label> <input type="radio" name="fileType" value="BibTeX"> <strong>BibTeX</strong> <span>- Export format compatible with LaTeX</span> </label> </div> <input type="hidden" name="articleId" value="83547292"> <div class="mt-lg-4 text-center"> <button class="citation-download-btn btn btn-primary"> Export </button> </div> </form> </div> </div> </div> </div> </div> <div class="modal fade" id="share-paper" tabindex="-1"> <div class="modal-dialog"> <div class="modal-content"> <div class="modal-header"> <button type="button" class="close" data-dismiss="modal"><span>×</span></button> <h4 class="modal-title">Share Paper <b class="text-primary"></b></h4> </div> <div class="modal-body"> <div class="my-4"> <div class="social-share"> <a class="social-share-item email" href="mailto:?subject=Forensic efficiency evaluation of a mtDNA whole genome sequencing system constructed with long fragment amplification strategy on DNA nanoball sequencing platform&body=https://www.peeref.com/works/83547292" target="_blank"> <img src="https://peeref-open.s3.amazonaws.com/images/social-share-email.svg" height="16"> </a> <a class="social-share-item linkedin" href="https://www.linkedin.com/shareArticle/?url=https://www.peeref.com/works/83547292" target="_blank"> <img src="https://peeref-open.s3.amazonaws.com/images/social-share-linkedin.svg" height="16"> </a> <a class="social-share-item twitter" href="https://twitter.com/share?url=https://www.peeref.com/works/83547292" target="_blank"> <img src="https://peeref-open.s3.amazonaws.com/images/social-share-twitter.svg" height="16"> </a> <a class="social-share-item wechat" href="javascipt:;" onclick="window.open('https://api.qrserver.com/v1/create-qr-code/?size=154x154&data=https://www.peeref.com/works/83547292', 'newwindow', 'height=300, width=300')"> <img src="https://peeref-open.s3.amazonaws.com/images/social-share-wechat.svg" height="16"> </a> <a class="social-share-item facebook" href="https://www.facebook.com/sharer/sharer.php?u=https://www.peeref.com/works/83547292" target="_blank"> <img src="https://peeref-open.s3.amazonaws.com/images/social-share-facebook.svg" height="16"> </a> </div> </div> </div> </div> </div> </div> <back-top-button></back-top-button> </main> <div class="container"> <div class="footer"> <div class="col-md-10"> <div class="d-flex flex-wrap" style="font-size: 15px;"> <a href="https://www.peeref.com/works" class="mx-3 px-2"> Papers </a> <a href="https://www.peeref.com/posters" class="mx-3 px-2"> Posters </a> <a href="https://www.peeref.com/abstracts" class="mx-3 px-2"> Abstracts </a> <a href="https://www.peeref.com/webinars" class="mx-3 px-2"> Webinars </a> <a href="https://www.peeref.com/questions" class="mx-3 px-2"> Questions </a> <a href="https://www.peeref.com/hubs" class="mx-3 px-2"> Hubs </a> <a href="https://www.peeref.com/funding" class="mx-3 px-2"> Funding </a> <a href="https://www.peeref.com/journals" class="mx-3 px-2"> Journals </a> <a href="https://www.peeref.com/connect" class="mx-3 px-2"> Connect </a> <a href="https://www.peeref.com/e-collections" class="mx-3 px-2"> Collections </a> <a href="https://www.peeref.com/reviewer" class="mx-3 px-2"> Reviewers </a> <a href="https://www.peeref.com/about" class="mx-3 px-2"> About Us </a> <a href="https://www.peeref.com/about/faq" class="mx-3 px-2"> FAQs </a> <a href="https://www.peeref.com/mobile-app" class="mx-3 px-2"> Mobile App </a> <a href="https://www.peeref.com/about/privacy" class="mx-3 px-2"> Privacy Policy </a> <a href="https://www.peeref.com/about/terms-of-use" class="mx-3 px-2"> Terms of Use </a> </div> </div> <div class="col-md-2"> <div class="d-flex justify-content-end"> <div class="sns"> <a href="https://www.facebook.com/Peeref-113216326987528" target="_blank"> <i class="ivu-icon ivu-icon-logo-facebook"></i> </a> <a href="https://twitter.com/Peeref1" target="_blank"> <i class="ivu-icon ivu-icon-logo-twitter"></i> </a> </div> </div> </div> </div> <div class="copyright"> © Peeref 2019-2025. All rights reserved. </div> </div> </div> <script src="https://peeref-open.s3.amazonaws.com/js/manifest.42bb1b6291289ba30c76.js"></script> <script src="https://peeref-open.s3.amazonaws.com/js/vendor.362294362b899c82d030.js"></script> <script src="https://peeref-open.s3.amazonaws.com/js/app.ee6e6ad3c472f6e3f93d.js"></script> <script> $(function() { $('#reading-btn').click(function() { const navHeight = $("#article-sticky-navbar").height(); const readingAreaTop = $("#collection").offset().top; const readingAreaHeight = readingAreaTop - navHeight - 30; $("html, body").animate( { scrollTop: readingAreaHeight }, 400 ); return false; }) }); </script> <script src="https://peeref-open.s3.amazonaws.com/vendor/MathJax-274/MathJax.js?config=default" async></script> <script async src="https://www.googletagmanager.com/gtag/js?id=UA-152048790-1"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'UA-152048790-1'); </script> <script type="text/javascript" id="cookiebanner" src="https://peeref-open.s3.amazonaws.com/js/cookiebanner.min.js" data-position="bottom" data-cookie="_uc_" data-expires="Wed, 31 Dec 2025 00:00:00 GMT" data-font-size="15px" data-close-text="Accept" data-close-precedes="false" data-close-style="border-radius: 5px; margin: 3px 15px; padding: 3px 10px; display: inline-block; font-weight: bold; background: rgb(245, 207, 71); color: rgb(16, 75, 125);" data-linkmsg="" data-moreinfo-decoration="underline" data-moreinfo="https://www.peeref.com/about/privacy" data-bg="rgb(16, 75, 125)" data-link="rgb(255, 255, 255)" data-message="Peeref uses cookies to improve your experience. Please read our <a>Privacy Policy</a> for more details."> </script> </body> </html>