Year: 2016
Type: article
Abstract: Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information for variant interpretation and understanding gene function. Here, we present a lightweight, flexible browser framework to display large population datasets of genetic variation. We demonstrate its use for exome sequence data from 60 706 individuals in the Exome Aggregation Consortium (ExAC). The ExAC browser provides gene- and transcript-centric displays of variation, a critical view for clinical applications. Additionally, we provide a variant display, which includes population frequency and functional annotation data as well as short read support for the called variant. This browser is open-source, freely available at http://exac.broadinstitute.org, and has already been used extensively by clinical laboratories worldwide.
Source: Nucleic Acids Research
DOI: 10.1093/nar/gkw971
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,992
Awards: G1209099612, G2512866349, G5719197815, Annotation and interpretation of loss-of-function polymorphisms in human genomes, Genomic dissection of inherited cardiomyopathies: identifying alleles, genes and mechanisms, for patient stratification., Center for the Study of Inflammatory Bowel Disease at Massachusetts General Hospital
OpenAlex ID: W2557981253