Article
ClinVar: improving access to variant interpretations and supporting evidence.
Nucleic acids research - 4 Jan 2018
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
Abstract excerpt
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 testing laboratories, research laboratories, expert panels and other groups. ClinVar aggregates data by...
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