News

Protein-coding variable number tandem repeat (VNTR) paper published in Science

September 23, 2021
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 of the largest effects of common genetic variants on human phenotypes (including height, biomarkers of health, and hair morphology) arise... Read more about Protein-coding variable number tandem repeat (VNTR) paper published in Science

Three talks and a poster talk at ASHG 2021

August 23, 2021

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 present a poster talk on dissecting Lp(a) genetics. Alison, Margaux, and Max all received semifinalist Charles J. Epstein Trainee Awards -- congratulations!

Alison Barton: "Incomplete penetrance of disease variants in the UK Biobank" (platform talk, Wed 10/20 at 11:15am)...

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New preprint on learning patterns of somatic mutation in cancer

August 4, 2021
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 resolution from epigenomic annotations. Applying this model to the Pan-Cancer Analysis of Whole Genomes (PCAWG) resource identified potential new driver mutations in understudied... Read more about New preprint on learning patterns of somatic mutation in cancer

Whole-exome imputation paper published in Nature Genetics

July 5, 2021
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 of genetic variants that are not directly measured in a cohort, thereby expanding the utility of existing data sets without incurring additional cost.... Read more about Whole-exome imputation paper published in Nature Genetics

Two talks and two posters at ProbGen 2021

April 16, 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 presented posters on genotyping and association analysis of copy-number variants (Margaux) and variable number tandem repeats (Ronen).

New preprint on large-effect protein-coding repeat polymorphisms

January 20, 2021
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) variation unseen by the analytical approaches used in large-scale human genetic studies. This exciting collaboration with Bob Handsaker and Steve McCarroll leveraged the initial... Read more about New preprint on large-effect protein-coding repeat polymorphisms

ASD mosaic CNV paper published in Nature Neuroscience

January 11, 2021
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 contributor to sporadic cases of autism spectrum disorder (ASD) in the Simons Simplex Collection (SSC) and SPARK data sets. Interestingly, unlike the recurrent,... Read more about ASD mosaic CNV paper published in Nature Neuroscience

New preprint on exome imputation and fine-mapping in UK Biobank

September 1, 2020
We are excited to share a new preprint, "Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses" (Barton et al.), which reports an atlas of 1,189 rare coding variants likely to causally influence 54 quantitative traits in UK Biobank. This analysis leveraged the initial release of N=49,960 UKB exomes to accurately impute variants with MAF down to ~0.00005 into the full cohort (N~500K). Association and... Read more about New preprint on exome imputation and fine-mapping in UK Biobank

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