Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genomic database
|
| gptkbp:basedIn |
gptkb:United_States
|
| gptkbp:citation |
Lek M, et al. Nature 2016; 536:285-291.
|
| gptkbp:dataSource |
multiple large-scale sequencing projects
|
| gptkbp:focus |
exome sequencing data
|
| gptkbp:fullName |
gptkb:Exome_Aggregation_Consortium_database
|
| https://www.w3.org/2000/01/rdf-schema#label |
ExAC database
|
| gptkbp:includes |
allele frequency
single nucleotide variants variant annotation functional annotation gene annotation protein-coding genes transcript annotation gene constraint metrics gene-level summary statistics global allele frequencies indels loss-of-function variants missense variants population stratification population-specific allele frequencies quality metrics sample ancestry sex information synonymous variants variant clinical significance variant consequence variant effect prediction variant evidence level variant filtering information variant literature links variant pathogenicity variant quality scores variant references variant review status variant zygosity variant-level summary statistics |
| gptkbp:maintainedBy |
gptkb:Broad_Institute
|
| gptkbp:provides |
over 60,000 individuals
|
| gptkbp:releaseYear |
2015
|
| gptkbp:successor |
gptkb:gnomAD_database
|
| gptkbp:type |
human exome variants
|
| gptkbp:usedBy |
geneticists
bioinformaticians clinical researchers |
| gptkbp:usedFor |
population genetics research
variant frequency analysis |
| gptkbp:website |
http://exac.broadinstitute.org/
|
| gptkbp:bfsParent |
gptkb:Exome_Aggregation_Consortium_(ExAC)
|
| gptkbp:bfsLayer |
5
|