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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...

Maxwell Sherman's paper on modeling somatic mutation rates to uncover cancer drivers ( Sherman*, Yaari*, Priebe* et al. 2022 Nat Biotech) is now published -- congratulations, Max! This work, a collaboration with Bonnie Berger's group at MIT, developed a deep-learning model to predict cancer-specific...

We're very excited to share our latest work at ASHG this October! Ronen Mukamel and Margaux Hujoel will present platform talks describing strong associations of structural variants with heritable traits and diseases that were revealed by statistical haplotype-sharing models. Ronen and Margaux were...

Alison Barton has graduated from the Harvard Medical School Bioinformatics and Integrative Genomics (BIG) PhD program and will be moving on to a postdoc in population genetics with David Reich. Congratulations, Alison!

Maxwell Sherman has completed MIT's Electrical Engineering and Computer Science (EECS) PhD program and is moving on to Serinus Biosciences, which he co-founded earlier this year. Congratulations, Max!

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...