Loh Lab

New preprint on mosaic copy number variants in autism

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.