The VarioPath Project: Determining Effect Sizes of Pathogenic Variants in Platelet Disorder Genes Using Clinical Data from 0.5M Whole Exome–Sequenced U.K. Biobank Participants

Janine Collins, M.B. B.Chir.
University of Cambridge
Cambridge, U.K.

Accurate calculation of the effect sizes of DNA variants is necessary for reliable reporting. The presentation aimed to determine the effect sizes of rare pathogenic/likely pathogenic variants (P/LPVs) causal of inherited platelet disorders. The authors found evidence for overestimation of the effect of variants for autosomal dominant disorders on platelet count/volume and clinical penetrance of P/LPVs causal of autosomal recessive platelet disorders.

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