Skip to Main Content

Paper Details

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Genome Med
114
2017
77 genes, BRCA1, BRCA2 variants, ExAC, NMD, pathogenic variants, sequence variants
Author NameAffiliation
Stephen E LincolnInvitae Corporation
Scott TopperInvitae Corporation
  • 1 - 2

Datasets

Dataset
Description
Source Link
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Release 1.2