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Whole-exome imputation paper published in Nature Genetics

Alison Barton's paper on whole-exome imputation and subsequent association and fine-mapping analyses in UK Biobank ( Barton et al. 2021 Nat Genet) is now published -- congratulations, Alison! Imputation is a statistical approach that leverages genetic data from a reference panel to enable analysis...

New preprint on learning patterns of somatic mutation in cancer

We are excited to share a new preprint, " Learning the mutational landscape of the cancer genome" (Sherman*, Yaari*, Priebe* et al.). This work, a collaboration with Bonnie Berger's group at MIT, developed a deep-learning model to predict cancer-specific neutral mutation rates at kilobase-scale...

Two talks and two posters at ProbGen 2021

Our lab attended the Probabilistic Modeling in Genomics (ProbGen) 2021 virtual conference. Alison Barton and Maxwell Sherman spoke about their work on whole-exome imputation in UK Biobank (Alison) and deep-learning neutral somatic mutation rates in cancers (Max), and Margaux Hujoel and Ronen Mukamel...

ASD mosaic CNV paper published in Nature Neuroscience

Maxwell Sherman's paper on mosaic CNVs in autism ( Sherman et al. 2020 Nat Neurosci) is now published -- congratulations, Max! This work, a collaboration with Chris Walsh and Peter Park, implicated large mosaic copy number variants (CNVs) arising early in embryonic development as a likely...