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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.
@my_helix @uk_biobank @bmneale @hailgenetics @atorkmani @RobertCGreen @atulbutte @gabecasis Loss of function variants in #SMAD6 for vision phenotypes. Important in human development and essential for blood vessel function in the developing mouse retina. (ncbi.nlm.nih.gov/pubmed/30098998).
@my_helix @uk_biobank @bmneale @hailgenetics @atorkmani @RobertCGreen @atulbutte @gabecasis A couple of other interesting associations that need some followup: 1) First linkage with handedness (#INTS10), 2) #TACR3 and age of menarche and 3) #TNPO3 with miscarriages.
@my_helix @uk_biobank @bmneale @hailgenetics @atorkmani @RobertCGreen @atulbutte @gabecasis Super excited to look at ways to compare these to our work with the Healthy Nevada Project @healthnv and our partners at @renownhealth.
@my_helix @uk_biobank @bmneale @hailgenetics @atorkmani @RobertCGreen @atulbutte @gabecasis @HealthNv @renownhealth Looking forward to looking at comprehensive risk scores including rare and common alleles (#polygenic). Happy to collaborate
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