92 lines
53 KiB
HTML
92 lines
53 KiB
HTML
<!DOCTYPE html>
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/*# sourceURL=/css/ampshared.css*/</style><meta property="og:locale" content="en_US"><meta property="og:type" content="article"><meta property="og:title" content="Coming Soon! Improving Representation of Functional Data in ClinVar - NCBI Insights"><meta property="og:description" content="NCBI is improving the way that functional data are submitted to ClinVar and how they are represented in the XML format and on the website. Almost half of the variants in ClinVar are variants of uncertain significance (VUS). It’s unclear what clinical action to take for these variants, creating a challenge for clinicians. One potential … Continue reading Coming Soon! Improving Representation of Functional Data in ClinVar →"><meta property="og:url" content="https://ncbiinsights.ncbi.nlm.nih.gov/2024/09/10/improving-representation-functional-data-clinvar/"><meta property="og:site_name" content="NCBI Insights"><meta property="article:publisher" content="https://www.facebook.com/ncbi.nlm"><meta property="article:published_time" content="2024-09-10T14:48:10+00:00"><meta property="og:image" content="https://ncbiinsights.ncbi.nlm.nih.gov/wp-content/uploads/2024/09/ClinVar_Functional_Data-2-e1725978340923.png"><meta property="og:image:width" content="1100"><meta property="og:image:height" content="575"><meta property="og:image:type" content="image/png"><meta name="author" content="NCBI Staff"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:creator" content="@NCBI"><meta name="twitter:site" content="@NCBI"><meta name="twitter:label1" content="Written by"><meta name="twitter:data1" content="NCBI Staff"><meta name="twitter:label2" 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<h1 class="amp-wp-title">Coming Soon! Improving Representation of Functional Data in ClinVar</h1>
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<time datetime="2024-09-10T14:48:10+00:00">
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6 months ago </time>
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<amp-img width="1024" height="535" src="https://i0.wp.com/ncbiinsights.ncbi.nlm.nih.gov/wp-content/uploads/2024/09/ClinVar_Functional_Data-2-e1725978340923.png?fit=1024%2C535&ssl=1" class="attachment-large size-large wp-post-image amp-wp-enforced-sizes i-amphtml-layout-intrinsic i-amphtml-layout-size-defined" alt="Background has lines of 0 and 1 lit up and lines of a, t, g, c in red, blue and green. Text says: Coming Soon! ClinVar Improving representation of functional data." data-hero-candidate="" layout="intrinsic" data-hero i-amphtml-ssr i-amphtml-layout="intrinsic"><i-amphtml-sizer slot="i-amphtml-svc" class="i-amphtml-sizer"><img alt="" aria-hidden="true" class="i-amphtml-intrinsic-sizer" role="presentation" src="data:image/svg+xml;base64,PHN2ZyBoZWlnaHQ9IjUzNSIgd2lkdGg9IjEwMjQiIHhtbG5zPSJodHRwOi8vd3d3LnczLm9yZy8yMDAwL3N2ZyIgdmVyc2lvbj0iMS4xIi8+"></i-amphtml-sizer><img class="i-amphtml-fill-content i-amphtml-replaced-content" decoding="async" loading="lazy" alt="Background has lines of 0 and 1 lit up and lines of a, t, g, c in red, blue and green. Text says: Coming Soon! ClinVar Improving representation of functional data." src="https://i0.wp.com/ncbiinsights.ncbi.nlm.nih.gov/wp-content/uploads/2024/09/ClinVar_Functional_Data-2-e1725978340923.png?fit=1024%2C535&ssl=1"></amp-img> </figure>
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<p><span data-contrast="auto">NCBI is improving the way that functional data are submitted to </span><a href="https://www.ncbi.nlm.nih.gov/clinvar/?utm_source=ncbi_insights&utm_medium=referral&utm_campaign=clinvar-functional-data-20240910"><span data-contrast="none">ClinVar</span></a><span data-contrast="auto"> and how they are represented in the XML format and on the website. Almost half of the variants in ClinVar are variants of uncertain significance (VUS). It’s unclear what clinical action to take for these variants, creating a challenge for clinicians. One potential way to resolve VUS is to develop functional assays to determine the effect the variant has on the gene product, at either the transcript or the protein level. While ClinVar can currently accept functional data, we are striving to make submission easier and more efficient and to make the data easier to find and use. </span><span data-ccp-props='{"134233117":true,"134233118":true,"201341983":0,"335557856":16777215,"335559740":240}'> </span></p>
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<h5><b><span data-contrast="auto">What will change?</span></b><span data-ccp-props="{}"> </span></h5>
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<p><span data-contrast="auto">In the coming weeks, we will make a prototype of these improvements available on </span><a href="https://github.com/ncbi/clinvar/"><span data-contrast="none">ClinVar’s GitHub repository</span></a><span data-contrast="auto">. The prototype will include:</span><span data-ccp-props="{}"> </span></p>
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<li data-leveltext="" data-font="Symbol" data-listid="11" data-list-defn-props='{"335552541":1,"335559685":720,"335559991":360,"469769226":"Symbol","469769242":[8226],"469777803":"left","469777804":"","469777815":"hybridMultilevel"}' aria-setsize="-1" data-aria-posinset="1" data-aria-level="1"><span data-amp-original-style="font-size: 17px;" class="amp-wp-8bdd01f">Updated submission templates </span></li>
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<li data-leveltext="" data-font="Symbol" data-listid="11" data-list-defn-props='{"335552541":1,"335559685":720,"335559991":360,"469769226":"Symbol","469769242":[8226],"469777803":"left","469777804":"","469777815":"hybridMultilevel"}' aria-setsize="-1" data-aria-posinset="1" data-aria-level="1"><span data-amp-original-style="font-size: 17px;" class="amp-wp-8bdd01f">An updated XSD and sample XML </span></li>
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<li data-leveltext="" data-font="Symbol" data-listid="11" data-list-defn-props='{"335552541":1,"335559685":720,"335559991":360,"469769226":"Symbol","469769242":[8226],"469777803":"left","469777804":"","469777815":"hybridMultilevel"}' aria-setsize="-1" data-aria-posinset="1" data-aria-level="1"><span data-amp-original-style="font-size: 17px;" class="amp-wp-8bdd01f">Mock-ups for the VCV, or variant, web pages </span></li>
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</ul>
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<p><b><span data-contrast="auto">Submitters</span></b><span data-contrast="auto">! These improvements will make it easier for data generators to submit the data to ClinVar. You will be able to submit data for thousands of variants from multiplexed functional assays, or for one or a few variants assessed in smaller experiments.</span><span data-ccp-props='{"134233117":true,"134233118":true,"201341983":0,"335557856":16777215,"335559740":240}'> </span></p>
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<p><b><span data-contrast="auto">Users</span></b><span data-contrast="auto">! These improvements will make it easier for you to find and understand functional data for variants.</span><span data-ccp-props='{"134233117":true,"134233118":true,"201341983":0,"335557856":16777215,"335559740":240}'> </span></p>
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<h5><b><span data-contrast="auto">Stay up to date</span></b><span data-ccp-props="{}"> </span></h5>
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<p><span data-contrast="auto">Follow us on social </span><a href="https://twitter.com/ncbi"><span data-contrast="none">@NCBI</span></a><span data-contrast="auto"> and </span><a href="https://list.nih.gov/cgi-bin/wa.exe?SUBED1=CLINVAR&A=1"><span data-contrast="none">join our mailing list</span></a><span data-contrast="auto"> to keep up to date on ClinVar.</span><span data-ccp-props="{}"> </span></p>
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<h5>Questions?</h5>
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<p><span data-contrast="auto">If you have questions or would like to provide feedback, please reach out to us at </span><a href="mailto:info@ncbi.nlm.nih.gov"><span data-contrast="none">info@ncbi.nlm.nih.gov</span></a><span data-contrast="auto">. </span><span data-ccp-props="{}"> </span></p>
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