ClinVar

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]

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. doi:10.1093/nar/gkv1222. PMC 4702865. PMID 26582918.
^ Landrum, M. J.; Kattman, B. L. (2018). "ClinVar at five years: delivering on the promise". Human Mutation. 39 (11): 1623–1630. doi:10.1002/humu.23641. PMC 11567647. PMID 30311387. S2CID 52963829.
^ Tina Hesman Saey (2018). "What genetic tests from 23andMe, Veritas and Genos really told me about my health". ScienceNews.

External links

NCBI Clinvar

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[1] 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. doi:10.1093/nar/gkv1222. PMC 4702865. PMID 26582918.

[2] Landrum, M. J.; Kattman, B. L. (2018). "ClinVar at five years: delivering on the promise". Human Mutation. 39 (11): 1623–1630. doi:10.1002/humu.23641. PMC 11567647. PMID 30311387. S2CID 52963829.

[3] Tina Hesman Saey (2018). "What genetic tests from 23andMe, Veritas and Genos really told me about my health". ScienceNews.

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