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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...

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...

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...

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...

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...

We are excited to share a new preprint, " Protein-coding repeat polymorphisms strongly shape diverse human phenotypes" (Mukamel*, Handsaker* et al.), which finds that some of the largest effects of common genetic variants on human phenotypes arise from variable-number-of-tandem-repeat (VNTR)...

We're very excited to share our ongoing work at ASHG this October! Alison Barton and Margaux Hujoel will present platform talks on penetrance of disease variants and CNV associations in UK Biobank, Maxwell Sherman will present a plenary talk on somatic mutations in cancer, and Ronen Mukamel will...

Ronen Mukamel and Bob Handsaker's paper on phenotypic effects of protein-coding variable-number-of-tandem repeat (VNTR) polymorphisms ( Mukamel*, Handsaker* et al. 2021 Science) is now published -- congratulations, Ronen and Bob! This exciting collaboration with Steve McCarroll's lab found that some...

We are excited to share a new preprint, " A spectrum of recessiveness among Mendelian disease variants in UK Biobank" (Barton et al.), which leverages whole-exome sequencing together with imputation in UK Biobank to identify carrier effects of rare variants known to cause recessive Mendelian...