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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...

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...

New preprint on phenotypic impacts of rare copy number variants

We are excited to share a new preprint, " Influences of rare copy number variation on human complex traits" (Hujoel et al.), which explores the phenotypic impact of rare copy number variation in the human genome, discovering many new ways in which genetic variation shapes human traits. These...