Article
ClinVar: public archive of relationships among sequence variation and human phenotype.
Nucleic acids research - 1 Jan 2014
Landrum Melissa J, Lee Jennifer M, Riley George R, Jang Wonhee, Rubinstein Wendy S, Church Deanna M, Maglott Donna R
Abstract excerpt
ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports of relationships among medically important variants and phenotypes. ClinVar accessions submissions reporting human variation, interpretations of the relationship of that variation to human health and the evidence supporting each interpretation. The database is tightly coupled with dbSNP and dbVar, which maintain...
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