Aggregation of 141,456 human exomes and genomes combined with mouse and human cell experiments data improves disease gene and variant annotation

Qingbo Wang; Hilary Finucane; Laurent Francioli; Konrad Karczewski; Emma Pierce-Hoffman; Genome Aggregation Database (gnomAD) Production Team; Genome Aggregation Database (gnomAD)  Consortium; Daniel MacArthur

5:45 PM - 6:05 PM

[1PW-14-7(2P-0044)] Aggregation of 141,456 human exomes and genomes combined with mouse and human cell experiments data improves disease gene and variant annotation

〇Qingbo Wang^1,2,3, Hilary Finucane^1,2, Laurent Francioli ^1,2, Konrad Karczewski^1,2, Emma Pierce-Hoffman^1,2, Genome Aggregation Database (gnomAD) Production Team^1,2, Genome Aggregation Database (gnomAD) Consortium^1,2, Daniel MacArthur^1,2 (1.Prog. in Med. and Pop. Gen., The Broad Inst. of MIT and Harvard, 2.ATGU, Massachusetts General Hospital, 3.PhD Prog. in Bioinfo., Harvard Univ.)

genome, Mendelian disease, omics, database, constraint

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The 42nd Annual Meeting of the Molecular Biology Society of Japan

[1PW-14-7(2P-0044)] Aggregation of 141,456 human exomes and genomes combined with mouse and human cell experiments data improves disease gene and variant annotation

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