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

摘要: ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports relationships among medically important variants and phenotypes. accessions submissions reporting human variation, interpretations the relationship that variation to health evidence supporting each interpretation. The database is tightly coupled with dbSNP dbVar, which maintain information about location on assemblies. also based phenotypic descriptions maintained in MedGen (http://www.ncbi.nlm.nih.gov/medgen). Each record represents submitter, phenotype, i.e. unit assigned an accession format SCV000000000.0. submitter can update submission at any time, case new version assigned. To facilitate evaluation medical importance variant, aggregates same variation/phenotype combination, adds value from other NCBI databases, assigns distinct RCV000000000.0 if there are conflicting clinical interpretations. Data multiple formats, including html, download as XML, VCF or tab-delimited subsets. provided annotation tracks genomic RefSeqs used tools such Variation Reporter (http://www.ncbi.nlm.nih.gov/variation/tools/reporter), what known user-supplied locations.