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We have released two preprints exploring mosaic chromosomal alterations in UK Biobank ( N~500K; Loh et al. bioRxiv) and BioBank Japan ( N~200K; Terao et al. bioRxiv). Highlights of these studies include discovery of several new risk loci at which acquired mutations systematically duplicate inherited...

Our work using computational techniques to explore mosaic copy-number mutations found in small fractions of cells was featured on the NIH Director's Blog: " Finding New Genetic Mutations Amid Healthy Cells"

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 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...

At the 2022 Probabilistic Modeling in Genomics (ProbGen) conference, Margaux Hujoel will be presenting her work on haplotype-informed CNV detection and subsequent association and fine-mapping analysis in UK Biobank: "Influences of rare copy number variation on human complex traits" (Mon Mar 28).

Alison Barton's paper on mitigated phenotypes observed in carriers of recessive disease variants ( Barton et al. 2022 AJHG) is now published -- congratulations, Alison! This work leveraged whole-exome sequencing together with imputation in UK Biobank to identify carrier effects of rare variants...

We are excited to share a new preprint, " Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer" (Mukamel*, Handsaker* et al.), which identifies variable-number-of-tandem-repeat (VNTR) polymorphisms that appear to generate the strongest known...

Margaux Hujoel's paper on haplotype-informed CNV detection (HI-CNV; Hujoel et al. 2022 Cell) is now published -- congratulations, Margaux! This work explores the phenotypic impact of rare copy number variation in the human genome, discovering many new ways in which genetic variation shapes human...

Nolan is a graduate student in the HMS Bioinformatics and Integrative Genomics (BIG) PhD program and Simone is a postdoctoral fellow at BWH / HMS. We are very excited that they have joined the lab and look forward to what we will learn together about structural and somatic variation. Welcome, Nolan...

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...