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It& #39;s live! After years of work and more than 16 months in peer review, the gnomAD package is now up at Nature. We have seven papers in total, exploring different scientific aspects of this collection of more than 140,000 exomes and genomes: https://www.nature.com/collections/afbgiddede">https://www.nature.com/collectio...
I& #39;ll have tweets later in the day about the science that went into this package, but here are some excellent summaries:
@broadinstitute coverage: https://www.broadinstitute.org/news/international-gnomad-consortium-releases-its-first-major-studies-human-genetic-variation
Great">https://www.broadinstitute.org/news/inte... News and Views piece by @deannachurch: https://www.nature.com/articles/d41586-020-01485-4
Nature">https://www.nature.com/articles/... editorial: https://www.nature.com/articles/d41586-020-01551-x">https://www.nature.com/articles/...
@broadinstitute coverage: https://www.broadinstitute.org/news/international-gnomad-consortium-releases-its-first-major-studies-human-genetic-variation
Great">https://www.broadinstitute.org/news/inte... News and Views piece by @deannachurch: https://www.nature.com/articles/d41586-020-01485-4
Nature">https://www.nature.com/articles/... editorial: https://www.nature.com/articles/d41586-020-01551-x">https://www.nature.com/articles/...
Massive thanks and congratulations to all of the lead authors on this collection of papers - @konradjk, @cureffi, @beryl_bbc, @RyanLCollins13, @nickywhiffin, @qbw_128, @imarmean, Aaron Kleinman, and Harrison Brand.
As well as to everyone else who made this project possible, expecially @Jalfoldi, @LFranciol, Grace Tiao, @mattsolomonson, Nick Watts, @benweisburd, Kristen Laricchia, and the teams from Broad DSP and @hailgenetics.
The gnomAD team are data parasites - we are completely dependent on the generosity of principal investigators willing to share their data from independent research projects. Without the 109 (!) PIs who donated data to this project there would be no gnomAD: https://gnomad.broadinstitute.org/about ">https://gnomad.broadinstitute.org/about&quo...
It& #39;s been a long journey from the first inception of a new data aggregation database in 2012, through the creation of ExAC and gnomAD, to this moment. Here& #39;s a blog post covering some of the highlights: https://macarthurlab.org/2020/05/27/the-gnomad-papers/">https://macarthurlab.org/2020/05/2...
Finally, as I settle into my new role in Australia, I am delighted to have left gnomAD leadership at @broadinstitute in the very safest of hands - new co-directors @dalygene and @HeidiRehm. Looking forward to working with them on many future data releases and much cool science!
