ClinVar explained
ClinVar is a public archive with free access to reports on the relationships between human variations and phenotypes, with supporting evidence. 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 databases, UniProt, expert panels and practical guidelines. [1] [2] [3]
External Links
NCBI Clinvar
Notes and References
- Landrum. M.J.. Lee. J.M.. Benson. M.. Brown. G.. Chao. C.. Chitipiralla. S.. Gu. B.. Hart. J.. Hoffman. D.. Hoover. J.. Jang. W.. 2016. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Research. 44. D1. D862–D868. 10.1093/nar/gkv1222. 26582918. 4702865.
- Landrum. M. J.. Kattman. B. L.. 2018. ClinVar at five years: delivering on the promise. Human Mutation. 39. 11. 1623–1630. 10.1002/humu.23641. 30311387. 52963829. free.
- News: What genetic tests from 23andMe, Veritas and Genos really told me about my health. Tina Hesman Saey. 2018. ScienceNews.