Article
ClinVar: public archive of interpretations of clinically relevant variants.
Nucleic acids research - 4 Jan 2016
Landrum Melissa J, Lee Jennifer M, Benson Mark, Brown Garth, Chao Chen, Chitipiralla Shanmuga, Gu Baoshan, Hart Jennifer, Hoffman Douglas, Hoover Jeffrey, Jang Wonhee, Katz Kenneth, Ovetsky Michael, Riley George, Sethi Amanjeev, Tully Ray, Villamarin-Salomon Ricardo, Rubinstein Wendy, Maglott Donna R
Abstract excerpt
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific...
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