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Our papers exploring mosaic chromosomal alterations in UK Biobank ( N~500K; Loh et al. 2020 Nature) and BioBank Japan ( N~200K; Terao et al. 2020 Nature) are now online at Nature. Highlights of these studies include discovery of several new risk loci at which acquired mutations systematically...

We are excited to share a new preprint, " Large mosaic copy number variations confer autism risk" (Sherman et al.), reporting mosaic CNVs we identified in genotyping data from the Simons Simplex Collection. We demonstrate a significant burden of large (>4 Mb) mosaic CNVs in ASD probands compared to...

Margaux is a postdoctoral fellow at BWH / HMS and will be developing methods for investigating the genetic architecture of complex traits and diseases. Welcome, Margaux!

We are excited to share a new preprint, " Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses" (Barton et al.), which reports an atlas of 1,189 rare coding variants likely to causally influence 54 quantitative traits in UK Biobank. This analysis...