Paper on repeat polymorphisms influencing glaucoma and colorectal cancer published in Cell
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 —
New preprint on hidden protein-altering variants with strong influences on common diseases
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 Kamitaki & Simone Rubinacci join the lab!
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 receives his PhD
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
Paper on haplotype-informed CNV detection published in Cell
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
New preprint on repeat polymorphisms influencing glaucoma and colorectal cancer risk
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*