ClinVar: public archive of interpretations of clinically relevant variants

ClinVar: public archive of interpretations of clinically relevant variants

2016, Vol. 44, Database issue | Melissa J. Landrum, Jennifer M. Lee, Mark Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Jeffrey Hoover, Wonhee Jang, Kenneth Katz, Michael Ovetsky, George Riley, Amanjeev Sethi, Ray Tully, Ricardo Villamarin-Salomon, Wendy Rubinstein and Donna R. Maglott
ClinVar is a public archive maintained by the National Center for Biotechnology Information (NCBI) that stores and aggregates interpretations of the clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type, or genomic location, submitted by various sources such as clinical testing laboratories, research laboratories, locus-specific databases, OMIM®, GeneReviews™, UniProt, expert panels, and practice guidelines. Each submission is assigned an accession number (SCV), and the interpretations are aggregated by variant-condition combination (RCV). ClinVar uses data standards like HGVS nomenclature and MedGen identifiers. The data are freely accessible on the web and via programmatic access through NCBI’s E-utilities. Future developments include a variant-centric XML archive and a web page for details of SCV submissions. The database supports both general and advanced queries and is integrated with other NCBI resources like dbSNP and dbVar.ClinVar is a public archive maintained by the National Center for Biotechnology Information (NCBI) that stores and aggregates interpretations of the clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type, or genomic location, submitted by various sources such as clinical testing laboratories, research laboratories, locus-specific databases, OMIM®, GeneReviews™, UniProt, expert panels, and practice guidelines. Each submission is assigned an accession number (SCV), and the interpretations are aggregated by variant-condition combination (RCV). ClinVar uses data standards like HGVS nomenclature and MedGen identifiers. The data are freely accessible on the web and via programmatic access through NCBI’s E-utilities. Future developments include a variant-centric XML archive and a web page for details of SCV submissions. The database supports both general and advanced queries and is integrated with other NCBI resources like dbSNP and dbVar.
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[slides and audio] ClinVar%3A public archive of interpretations of clinically relevant variants