Pierrick Wainschtein

TL;DR: The results imply that rare variants, in particular those in regions of low linkage disequilibrium, are a major source of the still missing heritability of complex traits and disease.

TL;DR: In this article , a three-dimensional convolutional neural network for missense variant-effect prediction was used to estimate the pathogenicity of rare coding variants in 454,712 UK Biobank exomes for genes associated with a wide spectrum of complex traits and common diseases.