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How to Analyze Genomic Data: A Step-by-Step Guide

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K.","interactionStatistic":{"@type":"InteractionCounter","interactionType":"https://schema.org/FollowAction","name":"Followers","userInteractionCount":0}}],"comment":[{"@type":"Comment","text":"Among the essential elements of genomic data analysis are:\n1 Sequence alignment: comparing an organism's DNA or RNA sequence to a reference genome in order to spot differences.\n2 Finding genetic variants, such as insertions/deletions (indels) and single nucleotide polymorphisms (SNPs), known as \"variant calling.\" This is one of the initial steps to understanding the interplay between the genetic background of an organism and its associated physical traits.\n3 Functional annotation: The process of giving genes and regulatory areas in the genome a biological meaning. Including sources of annotation and phenotype data \n4 Pathway analysis: The study of how interactions between genes affect cellular functions within biological pathways.","upVoteCount":3,"author":{"@type":"Person","url":"https://in.linkedin.com/in/henajose","name":"Hena Jose","image":"https://media.licdn.com/dms/image/v2/D5603AQFtMFCfkOxTmg/profile-displayphoto-shrink_400_400/profile-displayphoto-shrink_400_400/0/1693071571662?e=2147483647&v=beta&t=VORq-Ta6QFy9HkPCNVJFa4YvW4433ys3lZbS2uXmkoQ","interactionStatistic":{"@type":"InteractionCounter","interactionType":"https://schema.org/FollowAction","name":"Followers","userInteractionCount":0}}},{"@type":"Comment","text":"Regular Communication with Stakeholders are essential for maintaining transparency and ensuring everyone is on the same page.\n\nRespecting the Scope of the project is paramount. Be mindful of the initial objectives, timelines, and expectations set forth.\n\nWhen communicating your findings, consider the technical expertise and familiarity of your audience with data-related concepts. Tailoring your language ensures that the essence of your insights is comprehensible to diverse stakeholders.\n\nBegin with a high-level summary that encapsulates the key takeaways. Subsequently, supplement this overview with detailed figures, charts, and graphs.","upVoteCount":0,"author":{"@type":"Person","url":"https://fr.linkedin.com/in/mohamad-maatouk","name":"Mohamad MAATOUK, Ph.D.","image":"https://media.licdn.com/dms/image/v2/D4E03AQHx4T8liLF_UA/profile-displayphoto-shrink_400_400/profile-displayphoto-shrink_400_400/0/1718211544418?e=2147483647&v=beta&t=U5MzPSPYg0XjzsaUfowEAMCfESF5LhugOVq1rvzo5xc","interactionStatistic":{"@type":"InteractionCounter","interactionType":"https://schema.org/FollowAction","name":"Followers","userInteractionCount":0}}},{"@type":"Comment","text":"This article talks at data level. At clinical level usage of genomic data needs more attention at regulatory perspective. There needs compliance environment to handle, process and deliver genomic data. e.g., CAP, CLIA are regulatory framework for clinical genomics in US. There are many other regulatory frameworks available across world. Need to choose one and adhere to one.","upVoteCount":2,"author":{"@type":"Person","url":"https://ae.linkedin.com/in/kpalanikannan","name":"Palani Kannan K.","interactionStatistic":{"@type":"InteractionCounter","interactionType":"https://schema.org/FollowAction","name":"Followers","userInteractionCount":0}}}]} </script> <!----> </head> <body dir="ltr"> <!----><!----><!----> <div class="guest-upsells"> <form class="google-auth base-google-auth" action="https://www.linkedin.com/uas/login-submit" method="post"> <input name="loginCsrfParam" value="be696191-f420-4beb-8308-9946f3e0db32" type="hidden"> <input name="session_redirect" value="https://www.linkedin.com/advice/0/what-steps-analyzing-genomic-data-skills-bioengineering-ozb7e" type="hidden"> <input name="trk" value="pulse-article_google-one-tap-submit" type="hidden"> <code id="termsAndConditionsRendered" style="display: none"><!--true--></code> <div class="google-one-tap__module hidden fixed flex flex-col items-center top-[20px] 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<div class="article-segment-content-container "> <!----><!----> <section class="mb-2"> <ol itemscope itemtype="http://schema.org/BreadcrumbList" class="breadcrumbs "> <li itemprop="itemListElement" itemscope itemtype="http://schema.org/ListItem" class="breadcrumb inline-block mr-0.5 font-sans text-sm babybear:text-xs text-color-text after:content-['/'] after:text-color-text-low-emphasis after:ml-0.5 after:no-underline last:mr-0 last:after:hidden"> <a itemprop="item" class="breadcrumb__link inline-block link-no-visited-state !text-color-text-low-emphasis" href="https://www.linkedin.com/pulse/topics/home/" data-tracking-control-name="breadcrumb" data-tracking-will-navigate> <span class="font-normal" itemprop="name">All</span> </a> <meta itemprop="position" content="1"> </li> <li itemprop="itemListElement" itemscope itemtype="http://schema.org/ListItem" class="breadcrumb inline-block mr-0.5 font-sans text-sm babybear:text-xs text-color-text after:content-['/'] after:text-color-text-low-emphasis after:ml-0.5 after:no-underline last:mr-0 last:after:hidden"> <a aria-current="page" itemprop="item" class="breadcrumb__link inline-block link-no-visited-state !text-color-text" href="https://www.linkedin.com/pulse/topics/bioengineering-s9014/" data-tracking-control-name="breadcrumb" data-tracking-will-navigate> <span class="font-semibold" itemprop="name">Bioengineering</span> </a> <meta itemprop="position" content="2"> </li> </ol> </section> <h1 class="pulse-title text-display-md text-color-text lg:text-display-lg font-bold w-11/12 ">What are the steps for analyzing genomic data?</h1> <!----> <div class="powered-by-ai py-3 text-sm text-color-text-secondary">Powered by AI and the LinkedIn community</div> <section class="table-of-content pb-6"> <div class="group menu-item relative flex cursor-pointer flex-row justify-start border-0 pl-0" data-chunk-header-id="data-acquisition"> <h3 class="text-color-text group-hover:text-color-text-brand">1</h3> <div class="ml-2 mr-6 mt-0.5 min-w-[75%]"> <a class="fragmented-links font-normal !text-color-text underline decoration-1 underline-offset-4 group-hover:!text-color-text-brand" href="#data-acquisition" data-tracking-will-navigate data-tracking-control-name="article-ssr-frontend-x-article__toc-article-segment-navigation">Data acquisition </a> <!----> </div> <icon class="invisible absolute right-2 top-1/2 flex -translate-y-2/4 items-center justify-between rounded-full border-1 border-solid border-color-container-brand p-1 group-hover:visible" data-delayed-url="https://static.licdn.com/aero-v1/sc/h/6q8fxh9snmcwlh1wxg6fktwgf" data-svg-class-name="w-2 h-2 text-color-text-brand"></icon> </div> <div class="group menu-item relative flex cursor-pointer flex-row justify-start border-0 pl-0" data-chunk-header-id="data-preprocessing"> <h3 class="text-color-text group-hover:text-color-text-brand">2</h3> <div class="ml-2 mr-6 mt-0.5 min-w-[75%]"> <a class="fragmented-links font-normal !text-color-text underline decoration-1 underline-offset-4 group-hover:!text-color-text-brand" href="#data-preprocessing" data-tracking-will-navigate data-tracking-control-name="article-ssr-frontend-x-article__toc-article-segment-navigation">Data preprocessing </a> <p class="inline-promotion-text mt-0.5 text-xs font-normal text-color-text-low-emphasis">Be the first to add your personal experience</p> </div> <icon class="invisible absolute right-2 top-1/2 flex -translate-y-2/4 items-center justify-between rounded-full border-1 border-solid border-color-container-brand p-1 group-hover:visible" data-delayed-url="https://static.licdn.com/aero-v1/sc/h/6q8fxh9snmcwlh1wxg6fktwgf" data-svg-class-name="w-2 h-2 text-color-text-brand"></icon> </div> <div class="group menu-item relative flex cursor-pointer flex-row justify-start border-0 pl-0" data-chunk-header-id="data-exploration"> <h3 class="text-color-text group-hover:text-color-text-brand">3</h3> <div class="ml-2 mr-6 mt-0.5 min-w-[75%]"> <a 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mr-6 mt-0.5 min-w-[75%]"> <a class="fragmented-links font-normal !text-color-text underline decoration-1 underline-offset-4 group-hover:!text-color-text-brand" href="#data-analysis" data-tracking-will-navigate data-tracking-control-name="article-ssr-frontend-x-article__toc-article-segment-navigation">Data analysis </a> <p class="inline-promotion-text mt-0.5 text-xs font-normal text-color-text-low-emphasis">Be the first to add your personal experience</p> </div> <icon class="invisible absolute right-2 top-1/2 flex -translate-y-2/4 items-center justify-between rounded-full border-1 border-solid border-color-container-brand p-1 group-hover:visible" data-delayed-url="https://static.licdn.com/aero-v1/sc/h/6q8fxh9snmcwlh1wxg6fktwgf" data-svg-class-name="w-2 h-2 text-color-text-brand"></icon> </div> <div class="group menu-item relative flex cursor-pointer flex-row justify-start border-0 pl-0" data-chunk-header-id="data-interpretation"> <h3 class="text-color-text 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data-chunk-header-id="data-communication"> <h3 class="text-color-text group-hover:text-color-text-brand">6</h3> <div class="ml-2 mr-6 mt-0.5 min-w-[75%]"> <a class="fragmented-links font-normal !text-color-text underline decoration-1 underline-offset-4 group-hover:!text-color-text-brand" href="#data-communication" data-tracking-will-navigate data-tracking-control-name="article-ssr-frontend-x-article__toc-article-segment-navigation">Data communication </a> <!----> </div> <icon class="invisible absolute right-2 top-1/2 flex -translate-y-2/4 items-center justify-between rounded-full border-1 border-solid border-color-container-brand p-1 group-hover:visible" data-delayed-url="https://static.licdn.com/aero-v1/sc/h/6q8fxh9snmcwlh1wxg6fktwgf" data-svg-class-name="w-2 h-2 text-color-text-brand"></icon> </div> <div class="group menu-item relative flex cursor-pointer flex-row justify-start border-0 pl-0" data-chunk-header-id="here’s-what-else-to-consider"> <h3 class="text-color-text group-hover:text-color-text-brand">7</h3> <div class="ml-2 mr-6 mt-0.5 min-w-[75%]"> <a class="fragmented-links font-normal !text-color-text underline decoration-1 underline-offset-4 group-hover:!text-color-text-brand" href="#here’s-what-else-to-consider" data-tracking-will-navigate data-tracking-control-name="article-ssr-frontend-x-article__toc-article-segment-navigation">Here’s what else to consider </a> <!----> </div> <icon class="invisible absolute right-2 top-1/2 flex -translate-y-2/4 items-center justify-between rounded-full border-1 border-solid border-color-container-brand p-1 group-hover:visible" data-delayed-url="https://static.licdn.com/aero-v1/sc/h/6q8fxh9snmcwlh1wxg6fktwgf" data-svg-class-name="w-2 h-2 text-color-text-brand"></icon> </div> </section> <div class="x-article-introduction"> <div class="article-main__content" data-test-id="publishing-text-block"> <p> <span class>Genomic data, such as DNA sequences, gene expression, and epigenetic profiles, can provide valuable insights into the molecular mechanisms and functions of living organisms. However, analyzing genomic data requires a systematic and rigorous approach that involves multiple steps and tools. In this article, we will explain the basic steps for analyzing genomic data and some of the common methods and challenges involved.</span><!----> </p> </div> </div> </div> </div> </div> <div class="column-article-segment-contributions md:column md:w-1/2"> <code id="shouldExpandContributionBox" style="display: none"><!--true--></code> <div class="x-featured-expert-section__wrapper flex h-full flex-1 flex-col"> <div class="x-featured-expert-section h-full"> <div class="x-featured-expert-section__article-experts"> <div class="x-featured-expert-section__title mt-2 pb-0.5 text-xl font-bold text-color-text"> Top experts in this article </div> <div class="x-featured-expert-section__subtitle pb-3 text-sm text-color-text-secondary"> Selected by the community from 3 contributions. <a href="https://www.linkedin.com/help/linkedin/answer/a1652832" target="_blank" aria-label="Learn more about collaborative articles" 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data-delayed-url="https://media.licdn.com/dms/image/v2/D5603AQFtMFCfkOxTmg/profile-displayphoto-shrink_400_400/profile-displayphoto-shrink_400_400/0/1693071571662?e=2147483647&amp;v=beta&amp;t=VORq-Ta6QFy9HkPCNVJFa4YvW4433ys3lZbS2uXmkoQ" data-ghost-classes="bg-color-entity-ghost-background" data-ghost-url="https://static.licdn.com/aero-v1/sc/h/9c8pery4andzj6ohjkjp54ma2" alt="Member profile image"> </figure> <div class="x-featured-expert-section__header-subtitle-ctn self-center pl-2"> <div class="x-featured-expert-section__header text-md font-bold text-color-text"> <div class="x-featured-expert-section__expert-about flex flex-row items-center"> Hena Jose <!----> </div> </div> <div class="x-featured-expert-section__subtitle text-sm text-color-text-secondary"> <div class="x-featured-expert-section__expert-headline break-words font-normal"> Genomics | Healthtech | Lifescience | Information Technology </div> </div> </div> </a> <div class="x-featured-expert-section__cta pb-2 pl-12"> <div 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absolute mt-[-100px]"></a> <span class="header-index pr-1.5">1</span> <span class>Data acquisition</span><!----> </h2> </div> <div class="article-main__content" data-test-id="publishing-text-block"> <p> <span class>The first step for analyzing genomic data is to obtain the data from a reliable and relevant source. Depending on the type of genomic data and the research question, the data can be generated from various experimental platforms, such as sequencing, microarrays, PCR, or ChIP. Alternatively, the data can be downloaded from public databases, such as NCBI, EMBL, or ENCODE, that store and share genomic data from different organisms and projects. 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class="header-index pr-1.5">2</span> <span class>Data preprocessing</span><!----> </h2> </div> <div class="article-main__content" data-test-id="publishing-text-block"> <p> <span class>The second step for analyzing genomic data is to preprocess the data to remove noise, errors, and biases that can affect the accuracy and validity of the results. Preprocessing steps may include filtering, trimming, aligning, mapping, quantifying, normalizing, and annotating the data. For example, sequencing data may need to be filtered for low-quality reads, trimmed for adapter sequences, aligned to a reference genome, mapped to gene regions, quantified for expression levels, normalized for batch effects, and annotated for gene names and functions. 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Data exploration can involve descriptive statistics, such as mean, median, standard deviation, range, and outliers, as well as graphical representations, such as histograms, boxplots, scatterplots, and heatmaps. Data exploration can help identify potential problems, such as missing values, outliers, skewness, or multicollinearity, that may require further preprocessing or transformation. Data exploration can also help generate hypotheses and questions for further analysis.</span><!----> </p> </div> </div> </div> </div> </div> <div class="column-article-segment-contributions md:column md:pb-[200px] md:w-1/2"> <div class="article-segment-contributions-header-container bg-color-canvas-tint md:ml-[-12px] md:pt-6 lg:ml-0 sticky-on-scroll mt-1 "> <!----> <div class="add-your-perspective-section relative flex flex-row items-center " data-segment-urn="urn:li:articleSegment:(urn:li:linkedInArticle:7136444097732468736,7136444099745734657)" data-test-add-contribution> <code id="add_your_perspective_tracking_prefix" style="display: none"><!--"article-ssr-frontend-x-article"--></code> <code id="isGuest" style="display: none"><!--true--></code> <code id="showFuseErrorMessage" style="display: none"><!--true--></code> <div class="mb-2"> <a class="add-your-perspective-button btn-sm flex flex-col items-start justify-center lg:btn-md bg-color-surface-accent-tint-1 hover:bg-color-container-tertiary-hover " href="https://www.linkedin.com/signup/cold-join?session_redirect=%2Fadvice%2F0%2Fwhat-steps-analyzing-genomic-data-skills-bioengineering-ozb7e&amp;trk=article-ssr-frontend-x-article" target="_self" data-tracking-control-name="add_contribution_cta" data-tracking-will-navigate data-test-link data-test-add-contribution-btn aria-describedby="content-urn_li_articleSegment__urn_li_linkedInArticle_7136444097732468736_7136444099745734657_" data-test-contribution-cta-link-guest role="button"> <div data-test-contribution-btn-text class="add-your-perspective-button-text text-left text-color-text-low-emphasis">Add your perspective</div> <!----></a> </div> <div class="contribution-text-area-wrapper relative w-full hidden"> <code id="min_char_limit" style="display: none"><!--"125"--></code> <code id="min_reply_char_limit" style="display: none"><!--"1"--></code> <code id="max_char_limit" style="display: none"><!--"750"--></code> <code id="i18n_contribution_post_success" style="display: none"><!--"Contribution added successfully"--></code> <code id="i18n_contribution_post_error" style="display: none"><!--"Sorry, something went wrong while adding your contribution."--></code> <code id="i18n_contribution_edit_post_success" style="display: none"><!--"Contribution edited successfully"--></code> <code id="i18n_contribution_edit_post_error" style="display: none"><!--"Sorry, something went wrong while editing your contribution."--></code> <code id="i18n_try_refreshing_the_page" style="display: none"><!--"Try refreshing the page."--></code> <code id="i18n_characters" style="display: none"><!--"10 characters."--></code> <code id="i18n_characters_fraction" style="display: none"><!--"10/20 characters"--></code> <code id="i18n_contribution_post_rate_limit_error" style="display: none"><!--"It looks like you’ve already contributed a few times. 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Data analysis can involve different types of methods, such as differential expression, clustering, classification, correlation, regression, dimensionality reduction, or network analysis. Data analysis can help reveal the relationships, differences, similarities, or associations among the genomic data and other variables of interest. Data analysis tools, such as R, Python, Bioconductor, or BioPython, can help perform these methods.</span><!----> </p> </div> </div> </div> </div> </div> <div class="column-article-segment-contributions md:column md:pb-[200px] md:w-1/2"> <div class="article-segment-contributions-header-container bg-color-canvas-tint md:ml-[-12px] md:pt-6 lg:ml-0 sticky-on-scroll mt-1 "> <!----> <div class="add-your-perspective-section relative flex flex-row items-center " data-segment-urn="urn:li:articleSegment:(urn:li:linkedInArticle:7136444097732468736,7136444099754106880)" data-test-add-contribution> <code id="add_your_perspective_tracking_prefix" style="display: none"><!--"article-ssr-frontend-x-article"--></code> <code id="isGuest" style="display: none"><!--true--></code> <code id="showFuseErrorMessage" style="display: none"><!--true--></code> <div class="mb-2"> <a class="add-your-perspective-button btn-sm flex flex-col items-start justify-center lg:btn-md bg-color-surface-accent-tint-1 hover:bg-color-container-tertiary-hover " href="https://www.linkedin.com/signup/cold-join?session_redirect=%2Fadvice%2F0%2Fwhat-steps-analyzing-genomic-data-skills-bioengineering-ozb7e&amp;trk=article-ssr-frontend-x-article" target="_self" data-tracking-control-name="add_contribution_cta" data-tracking-will-navigate data-test-link data-test-add-contribution-btn aria-describedby="content-urn_li_articleSegment__urn_li_linkedInArticle_7136444097732468736_7136444099754106880_" data-test-contribution-cta-link-guest role="button"> <div data-test-contribution-btn-text class="add-your-perspective-button-text text-left text-color-text-low-emphasis">Add your perspective</div> <!----></a> </div> <div class="contribution-text-area-wrapper relative w-full hidden"> <code id="min_char_limit" style="display: none"><!--"125"--></code> <code id="min_reply_char_limit" style="display: none"><!--"1"--></code> <code id="max_char_limit" style="display: none"><!--"750"--></code> <code id="i18n_contribution_post_success" style="display: none"><!--"Contribution added successfully"--></code> <code id="i18n_contribution_post_error" style="display: none"><!--"Sorry, something went wrong while adding your contribution."--></code> <code id="i18n_contribution_edit_post_success" style="display: none"><!--"Contribution edited successfully"--></code> <code id="i18n_contribution_edit_post_error" style="display: none"><!--"Sorry, something went wrong while editing your contribution."--></code> <code id="i18n_try_refreshing_the_page" style="display: none"><!--"Try refreshing the page."--></code> <code id="i18n_characters" style="display: none"><!--"10 characters."--></code> <code id="i18n_characters_fraction" style="display: none"><!--"10/20 characters"--></code> <code id="i18n_contribution_post_rate_limit_error" style="display: none"><!--"It looks like you’ve already contributed a few times. 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Data interpretation can involve comparing the results with existing knowledge, literature, or databases, as well as evaluating the significance, reliability, and validity of the results. Data interpretation can also involve explaining the biological implications and functions of the results, such as the roles of genes, pathways, or networks in a specific context or condition. 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whitespace-pre-wrap pt-1 text-md leading-open text-color-text md:mb-0 md:pt-0 line-clamp-5 lg:text-lg" data-tracking-control-name="comment_text">This article talks at data level. At clinical level usage of genomic data needs more attention at regulatory perspective. There needs compliance environment to handle, process and deliver genomic data. e.g., CAP, CLIA are regulatory framework for clinical genomics in US. There are many other regulatory frameworks available across world. 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screen reader focus goes to button on desktop and li on mobile--> <button aria-label="English (English) selected" class="font-sans text-xs link block py-[5px] px-2 w-full hover:cursor-pointer hover:bg-color-action hover:text-color-text-on-dark focus:bg-color-action focus:text-color-text-on-dark language-selector__link--selected" data-tracking-control-name="language-selector-en_US" data-locale="en_US" role="menuitem" lang="en_US"> <strong>English (English)</strong> </button> </li> <li class="language-selector__item" role="presentation"> <!-- Adding aria-label to both the li and the button because screen reader focus goes to button on desktop and li on mobile--> <button aria-label="Español (Spanish)" class="font-sans text-xs link block py-[5px] px-2 w-full hover:cursor-pointer hover:bg-color-action hover:text-color-text-on-dark focus:bg-color-action focus:text-color-text-on-dark language-selector__link !font-regular" data-tracking-control-name="language-selector-es_ES" 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and li on mobile--> <button aria-label="हिंदी (Hindi)" class="font-sans text-xs link block py-[5px] px-2 w-full hover:cursor-pointer hover:bg-color-action hover:text-color-text-on-dark focus:bg-color-action focus:text-color-text-on-dark language-selector__link !font-regular" data-tracking-control-name="language-selector-hi_IN" data-locale="hi_IN" role="menuitem" lang="hi_IN"> हिंदी (Hindi) </button> </li> <li class="language-selector__item" role="presentation"> <!-- Adding aria-label to both the li and the button because screen reader focus goes to button on desktop and li on mobile--> <button aria-label="Magyar (Hungarian)" class="font-sans text-xs link block py-[5px] px-2 w-full hover:cursor-pointer hover:bg-color-action hover:text-color-text-on-dark focus:bg-color-action focus:text-color-text-on-dark language-selector__link !font-regular" data-tracking-control-name="language-selector-hu_HU" data-locale="hu_HU" role="menuitem" lang="hu_HU"> Magyar (Hungarian) </button> </li> <li 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w-full hover:cursor-pointer hover:bg-color-action hover:text-color-text-on-dark focus:bg-color-action focus:text-color-text-on-dark language-selector__link !font-regular" data-tracking-control-name="language-selector-no_NO" data-locale="no_NO" role="menuitem" lang="no_NO"> Norsk (Norwegian) </button> </li> <li class="language-selector__item" role="presentation"> <!-- Adding aria-label to both the li and the button because screen reader focus goes to button on desktop and li on mobile--> <button aria-label="ਪੰਜਾਬੀ (Punjabi)" class="font-sans text-xs link block py-[5px] px-2 w-full hover:cursor-pointer hover:bg-color-action hover:text-color-text-on-dark focus:bg-color-action focus:text-color-text-on-dark language-selector__link !font-regular" data-tracking-control-name="language-selector-pa_IN" data-locale="pa_IN" role="menuitem" lang="pa_IN"> ਪੰਜਾਬੀ (Punjabi) </button> </li> <li class="language-selector__item" role="presentation"> <!-- Adding aria-label to both the li and the button 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