ClinVar: improving access to variant interpretations and supporting evidence

ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. Interpretations of the clinical significance of variants are submitted by clinical te...

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Bibliografiske detaljer
Udgivet i:Nucleic Acids Res
Main Authors: Landrum, Melissa J, Lee, Jennifer M, Benson, Mark, Brown, Garth R, Chao, Chen, Chitipiralla, Shanmuga, Gu, Baoshan, Hart, Jennifer, Hoffman, Douglas, Jang, Wonhee, Karapetyan, Karen, Katz, Kenneth, Liu, Chunlei, Maddipatla, Zenith, Malheiro, Adriana, McDaniel, Kurt, Ovetsky, Michael, Riley, George, Zhou, George, Holmes, J Bradley, Kattman, Brandi L, Maglott, Donna R
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2018
Fag:
Database Issue
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5753237/
https://ncbi.nlm.nih.gov/pubmed/29165669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkx1153
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