News

New preprint on exome imputation and fine-mapping in UK Biobank

September 1, 2020
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 leveraged the initial release of N=49,960 UKB exomes to accurately impute variants with MAF down to ~0.00005 into the full cohort (N~500K). Association and... Read more about New preprint on exome imputation and fine-mapping in UK Biobank

New preprint on mosaic copy number variants in autism

January 28, 2020
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 their siblings; several probands exhibited clinical symptoms known to arise from disruption of the affected genomic regions. Read more about New preprint on mosaic copy number variants in autism

Talks and posters from our group at ASHG 2019

October 16, 2019
At ASHG this year, Max Sherman will be speaking about his work on mosaic CNVs in autism (Thu 10/17 at 9:45am, #105) and Po-Ru Loh will be speaking about his work on clonal hematopoiesis in UK Biobank (Sat 10/19 at 10:45am, #343). Ronen Mukamel and Alison Barton will be presenting posters exploring the phenotypic effects of variable number tandem repeats (#2994W) and rare coding variants (#3029F).

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