Database Commons

a catalog of biological databases

e.g., animal; RNA; Methylation; China

Database Profile

General information

URL: http://exac.broadinstitute.org
Full name: Exome Aggregation Consortium
Description: The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community.
Year founded: 2014
Last update: 2016
Version: 0.3.1
Accessibility:
Manual:
Accessible
Real time : Checking...
Country/Region: United States

Classification and Labelling

Data type:
DNA
Data object:
Database category:
Major organism:
Keywords:

Contact information

University/Institution: Broad Institute
Address: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
City:
Province/State:
Country/Region: United States
Contact name (PI/Team): Daniel G MacArthur
Contact email (PI/Helpdesk): macarthur@atgu.mgh.harvard.edu

Publications

27899611
The ExAC browser: displaying reference data information from over 60 000 exomes. [PMID: 27899611]
Karczewski KJ, Weisburd B, Thomas B, Solomonson M, Ruderfer DM, Kavanagh D, Hamamsy T, Lek M, Samocha KE, Cummings BB, Birnbaum D, The Exome Aggregation Consortium, Daly MJ, MacArthur DG.

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.

Nucleic Acids Res. 2017:45(D1) | 227 Citations (from Europe PMC, 2022-05-14)

Ranking

All databases:
223/5177 (95.712%)
Genotype phenotype and variation:
31/752 (96.011%)
Health and medicine:
50/1164 (95.79%)
223
Total Rank
227
Citations
45.4
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Record metadata

Created on: 2018-01-28
Curated by:
lin liu [2021-01-21]
irfan Hussain [2019-11-24]
Lina Ma [2019-06-27]
Lina Ma [2019-02-12]
Rabail Raza [2018-12-27]
Fatima Batool [2018-04-10]
Yang Zhang [2018-01-27]