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  1. NLM Collaboration Improves Standards for Reporting Clinical Genomics Variants 
    https://www.nlm.nih.gov/...Reporting_Clinical_Genomics_Variants.html
    ... and Updates NLM Collaboration Improves Standards for Reporting Clinical Genomics Variants April 14, 2022 The National Library of Medicine’s ( ... and EMBL-EBI identifiers will promote consistency in clinical variant reporting, facilitate efficient exchange of clinical variant data, ...
  2. MANE is published in Nature! - NCBI Insights 
    https://ncbiinsights.ncbi.nlm.nih.gov/...mane-is-published-in-nature
    ... be used as a universal standard to report clinical variants and for browser display in genome resources. Starting ... Select alone was not sufficient to report known clinical variants (Figure 1). Figure 1. The Sequence Viewer showing ...
  3. dbVar clinical and common structural variants track hub now available - NCBI Insights 
    https://ncbiinsights.ncbi.nlm.nih.gov/2020/07/09/dbvar-track-hub
    ... size , separated into Pathogenic and Non-pathogenic subtracks. Clinical variant data are updated every month when ClinVar releases ...
  4. pdfNational Library of Medicine FY 2024 Congressional Justification 
    https://www.nlm.nih.gov/about/2024CJ_NLM.pdf
    ... sequence data annotation strategy to promote consistency in clinical variant reporting, facilitate efficient exchange of clinical variant data, and reduce potential clinical harm caused by ...
  5. New in ClinVar - notifications for changes in the clinical interpretation of variants - NCBI Insights 
    https://ncbiinsights.ncbi.nlm.nih.gov/.../21/clinvar-follow-variant
    ... ClinVar that allows you to follow a particular variant and be notified if the overall clinical interpretation in ClinVar changes, for example from a pathogenic category to a non-pathogenic one. This service will let you know ... follow a variant from the variation page (Figure 1). Simply click ...
  6. CCDS Release 24 - NCBI Insights 
    https://ncbiinsights.ncbi.nlm.nih.gov/2022/11/02/ccds-release-24
    ... to provide a set of reference transcripts for clinical variant reporting and other research applications. The main difference ( ... used as a universal standard to report known clinical variants. Each MANE Select includes a RefSeq transcript and ...
  7. Practice Primer-BLAST Examples 
    https://www.nlm.nih.gov/.../2022-10_Primer-BLAST/examples.html
    ... the Primer-BLAST graphical view to add the Clinical Variants track to see clinical SNPs that are present ... 10 settings Graphical Primer-BLAST results showing the Clinical SNPs track with variants in exon 10 of MPO From the graphical ...
  8. Practice Primer-BLAST Examples 
    https://www.nlm.nih.gov/.../2023-09_Primer-BLAST/examples.html
    ... the Primer-BLAST graphical view to add the Clinical Variants track to see clinical SNPs that are present ... binding regions Graphical Primer-BLAST results showing the Clinical SNPs track with variants in exon 10 of MPO From the graphical ...
  9. NCBI Webinar: Using NCBI Resources and Variant Interpretation Tools for the Clinical Community on June 15, 2016. NLM ... 
    https://www.nlm.nih.gov/.../mj16_ncbi_webinar_clinical_variants.html
    ... that will show you how to use three clinical variant interpretation tools geared to clinicians through an overview of NCBI variation and medical genetics databases. A demonstration using a clinical case to show a phenotype-driven whole-genome ...
  10. SAMD9L-Related Ataxia-Pancytopenia Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK435692
    ... Significant developmental delay is present in the two clinical variants – Hoyeraal-Hreidarsson syndrome and Revesz syndrome – in which ... a 50% chance of inheriting the SAMD9L pathogenic variant ; intrafamilial clinical variability has been observed (see Clinical Description ). Other ...
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