Search

Search results

42 results found

Alison Barton has joined the lab!

Alison is a PhD candidate in the Harvard Medical School BIG program and is interested in studying the role of human genetic variation and population history in health and disease. Welcome, Alison!

Ronen Mukamel has joined the lab!

Ronen is an Instructor at Harvard Medical School and is interested in structural variation in human genomes and its effects on human health. Welcome, Ronen!

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...

Two clonal hematopoiesis papers published in Nature

Our papers exploring mosaic chromosomal alterations in UK Biobank ( N~500K; Loh et al. 2020 Nature) and BioBank Japan ( N~200K; Terao et al. 2020 Nature) are now online at Nature. Highlights of these studies include discovery of several new risk loci at which acquired mutations systematically...

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...

Upcoming presentations on clonal hematopoiesis

Po-Ru Loh will be presenting work on mosaic CNV detection using long-range phasing at the Broad Institute MIA Seminar on Wed 2/21 (with Giulio Genovese), the MIT Bioinformatics Seminar on Wed 2/21, and the UCLA Computational Genomics Winter Institute on Mon 2/26.

New preprint on mosaic copy number variants in autism

We are excited to share a new preprint, " Large mosaic copy number variations confer autism risk" (Sherman et al.), reporting mosaic CNVs we identified in genotyping data from the Simons Simplex Collection. We demonstrate a significant burden of large (>4 Mb) mosaic CNVs in ASD probands compared to...

Po-Ru Loh receives 2022 ISCB Overton Prize

Po-Ru Loh has been awarded the International Society for Computational Biology's Overton Prize for outstanding accomplishment by an early to mid-career scientist in the field of computational biology. A big thank-you to all of the mentors, collaborators, and trainees who contributed to the work...