Discover and read the best of Twitter Threads about #smad6
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@my_helix @uk_biobank @my_helix took a look at 1,317 @uk_biobank phenotypes w/ 50,000 exomes released last week. Going beyond #GWAS, used gene-based collapsing analysis. Thanks @bmneale Pheasant pipeline for clean phenotypes, @hailgenetics for the tooling.
@my_helix @uk_biobank @bmneale @hailgenetics Found some stuff that we expected, #LDLR for #cholesterol, #MC1R for red hair; but counts too small for other known conditions like HBOC/#BRCA2 @ATorkmani @RobertCGreen @atulbutte @gabecasis
@my_helix @uk_biobank @bmneale @hailgenetics @atorkmani @RobertCGreen @atulbutte @gabecasis Some interesting findings: #GP1BB associated with mean platelet volume. #GP1BB variants have been implicated in bleeding and platelet disorders. 
