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Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank
Cristopher V. Van Hout, Ioanna Tachmazidou, Joshua Backman…·Aris Baras
Exomes of 49,960 UK Biobank participants reveal 231,631 predicted loss-of-function variants (>10-fold more than imputed data); burden tests implicate PIEZO1, MEPE, and COL6A1 in disease traits.
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