1067 lines
94 KiB
Text
1067 lines
94 KiB
Text
<!DOCTYPE html>
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<html lang="en" dir="ltr" prefix="content: http://purl.org/rss/1.0/modules/content/ dc: http://purl.org/dc/terms/ foaf: http://xmlns.com/foaf/0.1/ og: http://ogp.me/ns# rdfs: http://www.w3.org/2000/01/rdf-schema# schema: http://schema.org/ sioc: http://rdfs.org/sioc/ns# sioct: http://rdfs.org/sioc/types# skos: http://www.w3.org/2004/02/skos/core# xsd: http://www.w3.org/2001/XMLSchema# ">
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<div class="text-with-summary margin-bottom-5">
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||
<p><span>NIST develops standards, methods, tools, and technology to advance the reliability of genomic measurements for use in biotechnology including genome editing, human genome sequencing, cancer genomics, and bioinformatics.</span></p><p><span>NIST's programs in genomics are supported by our deep expertise in measurement science, molecular biology, cancer biology, and bioinformatics. For example, NIST scientists led the development of the world's first and only whole genome reference materials, authoritatively characterized by the NIST-led </span><a href="/programs-projects/genome-bottle" data-entity-type="node" data-entity-uuid="b3670f8f-5e6e-453e-875b-9788e01fb478" data-entity-substitution="canonical" title="Genome in a Bottle"><span>Genome in a Bottle Consortium</span></a><span>; these human genomes provide laboratories with the capability to accurately “map” DNA for genetic testing, benchmark sequencing technologies and bioinformatics, and develop new medical diagnostics and future customized drug therapies. The </span><span lang="EN">NIST-led </span><a href="https://www.nist.gov/programs-projects/nist-genome-editing-consortium"><span lang="EN">Genome Editing Consortium</span></a><span lang="EN"> </span><span>aims to address the measurements and standards needed to increase confidence and lower the risk of utilizing </span><a href="/blogs/taking-measure/rewritten-our-dna-measurements-genome-editing" data-entity-type="node" data-entity-uuid="48f6290d-cd71-459d-babb-da94df0acae7" data-entity-substitution="canonical" title="Rewritten in Our DNA: Measurements for Genome Editing"><span>genome editing technologies</span></a><span> in research and commercial products. NIST's </span><a href="/programs-projects/cancer-biomarker-measurements-and-collaborations" data-entity-type="node" data-entity-uuid="7deec627-9a01-4099-a592-304b3f749472" data-entity-substitution="canonical" title="Cancer Biomarker Measurements and Collaborations"><span>cancer biomarker reference materials</span></a><span> help researchers and clinicians establish analytical validation of their measurement processes.</span></p>
|
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class="nist-block"
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>
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<div class="nist-card__inner">
|
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<div class="nist-card__image">
|
||
<div class="entity-reference"> <figure class="nist-image">
|
||
|
||
<img loading="lazy" src="/sites/default/files/styles/800w_x_400h/public/images/2021/05/11/illustrate-DNA-600px.jpg.webp?itok=fx0HhMj9" width="800" height="400" alt="illustrated strand of DNA and Y chromosome" typeof="foaf:Image" />
|
||
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|
||
<div data-caption-editable="true" class="nist-image__caption-content">
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|
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</figcaption>
|
||
</figure>
|
||
</div>
|
||
|
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|
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<div class="nist-card__title">
|
||
<h3> Genome in a Bottle and the Genome Sequencing Process
|
||
</h3>
|
||
</div>
|
||
<div class="nist-card__content">
|
||
<div class="text-long"><figure class=" align-center nist-video" role="group">
|
||
<div data-media-id="319836">
|
||
<div class="video-embed-field"><div class="video-embed-field-lazy" data-video-embed-field-lazy="<div class="video-embed-field-provider-nist-kaltura video-embed-field-responsive-video"><iframe width="854" height="480" frameborder="0" allow="autoplay *; fullscreen *; encrypted-media *" allowfullscreen="allowfullscreen" src="https://www.kaltura.com/p/684682/embedPlaykitJs/uiconf_id/55674542?iframeembed=true&amp;entry_id=0_ufeabe9o"></iframe>
|
||
</div>
|
||
"><img alt="Genome in a Bottle and the Genome Sequencing Process" loading="lazy" src="https://cdnsecakmi.kaltura.com/p/684682/sp/68468200/thumbnail/entry_id/0_ufeabe9o/width/1280" typeof="foaf:Image">
|
||
<button class="video-embed-field-lazy-play"></button>
|
||
<div class="video-embed-field-lazy-title">Genome in a Bottle and the Genome Sequencing Process</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
<figcaption class="nist-image__caption">The NIST Genome in a Bottle Consortium is a public-private-academic consortium hosted by NIST to develop the technical infrastructure (reference standards, reference methods, and reference data) to enable translation of whole human genome sequencing to clinical practice. In this animation, learn more about the genome sequencing process and why standards are such an important part of this process.</figcaption>
|
||
</figure>
|
||
|
||
</div>
|
||
|
||
</div>
|
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</div>
|
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|
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</div>
|
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</div>
|
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|
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<div class="grid-container margin-y-5">
|
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|
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<div class="paragraph paragraph--type--topic-text paragraph--view-mode--default">
|
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<div class="nist-region-heading">
|
||
<h2> Key Accomplishments
|
||
</h2>
|
||
</div>
|
||
<div class="tablet-lg:grid-col-8 padding-right-5">
|
||
<div class="text-long"><ul>
|
||
<li><span><span><span><span><span>The NIST Genome Editing Consortium Lexicon Working Group has developed a <a data-entity-substitution="canonical" data-entity-type="node" data-entity-uuid="81c20fbd-2831-4536-9c14-e2c1030fc178" href="/programs-projects/nist-genome-editing-lexicon" title="NIST Genome Editing Lexicon">standard genome editing lexicon</a>, with 42 defined terms. This lexicon was developed to provide a unified reference set of terms and technical definitions that standardizes their use and meaning, helping the biotechnology community have productive communications. </span></span></span></span></span></li>
|
||
<li><span><span><span><span><span>NIST’s <a data-entity-substitution="canonical" data-entity-type="node" data-entity-uuid="2ad5c892-6429-4be1-946a-58e649c81458" href="/news-events/news/2015/05/measuring-stick-standard-gene-sequencing-now-available-nist" title="'Measuring Stick' Standard for Gene Sequencing Now Available from NIST"><span>human genome reference material</span></a>, the first of its kind in the world, generated data that is accurate enough to be used as a benchmarking tool for medical and research labs. The U.S. Food and Drug Administration used this resource to approve one of the first commercially available next-generation DNA sequencers for clinical use. </span></span></span></span></span></li>
|
||
<li><span><span><span><span><span>NIST now offers <a data-entity-substitution="canonical" data-entity-type="node" data-entity-uuid="5459978a-5d55-4c03-952b-0966dfb18028" href="/news-events/news/2016/09/nist-releases-new-family-standardized-genomes" title="NIST Releases New 'Family' of Standardized Genomes"><span>four additional human genome reference materials</span></a> to help test labs assess their ability to measure genetic links within families, and compare and contrast genes from people with different lineages. These additional materials increase the confidence of DNA sequencing labs in reporting results, improving genetic tests used for disease risk prediction, diagnosis, and progression tracking. These reference materials also give companies reliable data to guide innovation in hardware, software and clinical research.</span></span></span></span></span></li>
|
||
<li><span><span><span><span><span><span>GIAB developed the <a data-entity-substitution="canonical" data-entity-type="node" data-entity-uuid="b9ddced7-7ca5-4dfe-86e5-0f212389eac5" href="/news-events/news/2020/06/nist-develops-benchmark-accurately-detecting-large-genetic-mutations-linked" title="NIST Develops Benchmark for Accurately Detecting Large Genetic Mutations Linked to Major Diseases">first benchmark of large structural changes</a></span><a data-entity-substitution="canonical" data-entity-type="node" data-entity-uuid="b9ddced7-7ca5-4dfe-86e5-0f212389eac5" href="/news-events/news/2020/06/nist-develops-benchmark-accurately-detecting-large-genetic-mutations-linked" title="NIST Develops Benchmark for Accurately Detecting Large Genetic Mutations Linked to Major Diseases"> </a><span><a data-entity-substitution="canonical" data-entity-type="node" data-entity-uuid="b9ddced7-7ca5-4dfe-86e5-0f212389eac5" href="/news-events/news/2020/06/nist-develops-benchmark-accurately-detecting-large-genetic-mutations-linked" title="NIST Develops Benchmark for Accurately Detecting Large Genetic Mutations Linked to Major Diseases">that occur in the human genome</a>, which will enable clinical translation and technology development for detection of diseases associated with these difficult-to-detect changes</span><span>; GIAB benchmarks helped demonstrate the performance of </span><a href="https://www.nature.com/articles/s41587-020-0503-6"><span>a new nanopore-based technology</span></a><span>; </span><span>collaboration with PacBio to <a href="https://rdcu.be/ckpXV">benchmark performance of a new highly accurate long DNA sequencing technology</a>. NIST and GIAB continue to use new technologies to <a data-entity-substitution="canonical" data-entity-type="node" data-entity-uuid="ee7c2016-ab1f-424b-81fa-84b5474ad5e1" href="/blogs/taking-measure/genome-bottle-spelling-out-dnas-dark-sequences" title="Genome in a Bottle: Spelling Out DNA’s ‘Dark’ Sequences">shed light on accuracy</a> of more and more challenging DNA sequences</span><span>.</span></span></span></span></span></span></li>
|
||
<li><span><span><span><span><span>Researchers from NIST patented the <a data-entity-substitution="canonical" data-entity-type="node" data-entity-uuid="aa52548b-2e99-499b-a295-da38f09a3f6e" href="/news-events/news/2017/02/nist-patents-first-dna-method-authenticate-mouse-cell-lines" title="NIST Patents First DNA Method to Authenticate Mouse Cell Lines"><span>first short tandem repeat DNA method</span></a> for authenticating the mouse cell lines used for genetic research. The method enables better use of taxpayers’ investment in science by helping to provide assurance that cell lines are as labelled.</span></span></span></span></span></li>
|
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<li><span><span><span><span><span>NIST researchers in the cancer biomarker team used human cancer cell lines for copy number measurements and to develop reference materials of the genes for <a data-entity-substitution="canonical" data-entity-type="node" data-entity-uuid="71ae1eac-7c59-48b5-b72f-26536dc3a25f" href="/programs-projects/nist-her2-genomic-dna-standard-reference-material-srmr-2373" title="NIST HER2 Genomic DNA Standard Reference Material, SRM® 2373">ERBB2 (HER2)</a><a href="https://www.nist.gov/programs-projects/nist-her2-genomic-dna-standard-reference-material-srmr-2373">,</a> <a data-entity-substitution="canonical" data-entity-type="node" data-entity-uuid="cae756ba-fa96-42b4-b53a-c19e0a901977" href="/news-events/news/2018/06/nist-reference-material-8366-cancer-biomarker-egfr-and-met-measurements-now" title="NIST Reference Material 8366 for Cancer Biomarker EGFR and MET Measurements now available">EGFR, and MET</a> and characterized the materials using an interlaboratory testing program. </span></span></span></span></span></li>
|
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<li><span><span><span><span><span>A NIST-led consortium of more than 100 organizations from the public, private and academic sectors created the first-ever <a data-entity-substitution="canonical" data-entity-type="node" data-entity-uuid="3b7bd359-7beb-4d5a-93a8-b8367438cc1c" href="/programs-projects/external-rna-controls-consortium" title="External RNA Controls Consortium"><span>reference material</span></a> <span><span>that is used to produce spike-in controls for RNA measurements</span></span>. The reference material helps labs check the technical performance of their equipment, giving them confidence that they have reliable, reproducible measurements of the activity of genes, which influence our health and can be manipulated in other organisms to make commercial products. The reference material is used for product and method development, and quality control. </span></span></span></span></span></li>
|
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<div property="schema:text" class="text-with-summary"> We started from the bottom and now we’re here — geneticist and molecular biologist Samantha Maragh brought NIST into a revolution for the biomedical sciences when it was only at its origins, putting the value of standards front and center in everyone's minds. It all started with bacteria, specifically bacteria with genomic elements called CRISPR, along with a protein called Cas9. These particular
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