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...

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...

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 --...

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...

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...

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...

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...

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...