databases > DOI:10.25504/FAIRsharing.wx5r6f

ready ClinVar

General Information
ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. ClinVar processes submissions reporting variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar then presents the data for interactive users as well as those wishing to use ClinVar in daily workflows and other local applications. ClinVar works in collaboration with interested organizations to meet the needs of the medical genetics community as efficiently and effectively as possible.




How to cite this record FAIRsharing.org: ClinVar; ClinVar; DOI: https://doi.org/10.25504/FAIRsharing.wx5r6f; Last edited: Nov. 23, 2018, 11:27 a.m.; Last accessed: Dec 16 2018 4:56 p.m.


Record added: March 15, 2016, 12:52 p.m.
Record updated: Aug. 17, 2016, 1:54 p.m. by The FAIRsharing Team.

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ClinVar: public archive of relationships among sequence variation and human phenotype.

Landrum MJ,Lee JM,Riley GR,Jang W,Rubinstein WS,Church DM,Maglott DR
Nucleic Acids Res 2013

View Paper (PubMed) View Publication

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