ExAC Edit

Citations: 2471

z-index: 823.67

Basic information
Short name ExAC
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.
URL http://exac.broadinstitute.org
Year founded 2014
Last update & version 2016 0.3.1
Accessibility Accessible
Contact information

The contact information is provided to facilitate update of database information, and it is curated based on the contact details in the database or the related publications. To ensure effective contact with database constructors, we give priority to the contact details in the database.

University/Institution Broad Institute
Address Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Country/Region United States
Contact name (PI/Team) Daniel G MacArthur
Contact email (PI/Helpdesk) macarthur@atgu.mgh.harvard.edu
Data information
Data object
Data type
Database category
Major organism
  • 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)

    74 Citations (from Europe PMC, 2019-07-27)

  • Analysis of protein-coding genetic variation in 60,706 humans. [PMID: 27535533]
    Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur, null null

    Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC). This catalogue of human genetic diversity contains an average of one variant every eight bases of the exome, and provides direct evidence for the presence of widespread mutational recurrence. We have used this catalogue to calculate objective metrics of pathogenicity for sequence variants, and to identify genes subject to strong selection against various classes of mutation; identifying 3,230 genes with near-complete depletion of predicted protein-truncating variants, with 72% of these genes having no currently established human disease phenotype. Finally, we demonstrate that these data can be used for the efficient filtering of candidate disease-causing variants, and for the discovery of human 'knockout' variants in protein-coding genes.

    Nature 2016:536(7616)

    2397 Citations (from Europe PMC, 2019-07-27)


  • Ranking in all databases: No. 2
  • Ranking in category/categories:
    • Genotype phenotype and variation: No. 1
    • Health and medicine: No. 1
The box plots depict Z-index distribution for all databases in Database Commons and for specific database category/categories. The red line indicates log2(Z-index) of ExAC.

Word cloud

Related Database



Record metadata

  • Created on: 2018-01-28
    • ***ina@***c.cn [2019-06-27]
    • ***ina@***c.cn [2019-02-12]
    • ***ina@***c.cn [2019-02-12]
    • ***ailzehra@***.com [2018-12-27]
    • ***imabatool@***u.edu.pk [2018-04-10]
    • ***ngyang17m@***c.cn [2018-01-27]

Community reviews 0 stars (0 reviews)

quality & quantity
organization & presentation
accessibility & reliability
Reviewed by