Article
ClinVar: improvements to accessing data.
Nucleic acids research - 8 Jan 2020
Landrum Melissa J, Chitipiralla Shanmuga, Brown Garth R, Chen Chao, Gu Baoshan, Hart Jennifer, Hoffman Douglas, Jang Wonhee, Kaur Kuljeet, Liu Chunlei, Lyoshin Vitaly, Maddipatla Zenith, Maiti Rama, Mitchell Joseph, O'Leary Nuala, Riley George R, Shi Wenyao, Zhou George, Schneider Valerie, Maglott Donna, Holmes J Bradley, Kattman Brandi L
Abstract excerpt
ClinVar is a freely available, public archive of human genetic variants and interpretations of their relationships to diseases and other conditions, maintained at the National Institutes of Health (NIH). Submitted interpretations of variants are aggregated and made available on the ClinVar website (https://www.ncbi.nlm.nih.gov/clinvar/), and as downloadable files via FTP and through programmatic tools such as...
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