Ronen Mukamel and Bob Handsaker’s paper on phenotypic effects of noncoding variable number tandem repeats (VNTRs) (Mukamel*, Handsaker* et al. 2023 Cell) is now published —
We are excited to share a new preprint, “Hidden protein-altering variants influence diverse human phenotypes” (Hujoel et al.), which finds that some of the largest
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
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
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
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*
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
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!
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
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
