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Using ClinVar as a Resource to Support Variant Interpretations

ClinVar is a freely accessible, public archive of reports of the relationships among genomic variants and phenotypes. To facilitate evaluation of the clinical significance of each variant, ClinVar aggregates submissions of the same variant, displays supporting data from each submission, and determin...

詳細記述

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書誌詳細
出版年:Curr Protoc Hum Genet
主要な著者: Harrison, Steven M., Riggs, Erin R., Maglott, Donna R., Lee, Jennifer M., Azzariti, Danielle R., Niehaus, Annie, Ramos, Erin M., Martin, Christa L., Landrum, Melissa J., Rehm, Heidi L.
フォーマット: Artigo
言語:Inglês
出版事項: 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4832236/
https://ncbi.nlm.nih.gov/pubmed/27037489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/0471142905.hg0816s89
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