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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Podrobná bibliografie
Vydáno v:Nucleic Acids Res
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
Témata:
Database Issue
On-line přístup: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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