Welcome to the ExAC list + Version 0.3 release!

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Konrad Karczewski

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Jan 14, 2015, 1:45:57 AM1/14/15
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Hi ExAC enthusiasts,

First off, welcome to this list! We promise to keep the list fairly low-traffic, primarily for announcements relating to the ExAC dataset and browser. As many of you may know, ExAC is a coalition of many large-scale projects that seek to aggregate and harmonize exome sequence data (currently over 60,000 individuals) and release summary data for the wider scientific community. For any questions about the dataset, please visit the ExAC browser at http://exac.broadinstitute.org/ (in particular the About and FAQ pages) - for further questions, please email exomeco...@gmail.com

We are delighted to announce the release of version 0.3 of the ExAC data and browser today. The new VCF includes data from 60,706 individuals spanning 9,362,512 sites (10,195,872 variants), and the browser includes a number of new features. Since the previous version:

Changes to the VCF (thanks to Monkol Lek):
-Additional low-quality samples were identified and removed, including samples with outlier chrX heterozygosity and chrY normalized coverage.
-Sites removed with Inbreeding Coefficient < -0.2 (sites with an excess of heterozygosity).
-Sex chromosome genotypes have been fixed - males are now hemizygous on X and Y (also available broken down by population; more information in README.population_annotations)
-Annotated with VEP v77 and LOFTEE (15b6719)

Changes to the browser:
-Additional quality metrics added to variant page, including histograms to view background distributions
-Ability to export coverage plot and exon diagram as SVG
-CSV export now includes much additional information. Very data.
-Variant table now preferentially displays protein consequence for canonical transcript, if available, and can sort by severity of impact
-Many other minor fixes, including improved mobile view

Please feel free to submit any additional issues to https://github.com/konradjk/exac_browser/issues

Happy exploring,
-Konrad
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