Laboratory Name
Slide Title
Slide Title
Latest News
-
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 — congratulations, Ronen and Bob! This work leveraged whole-genome sequencing data in large cohorts together with long-read assemblies from HGSVC2 to analyze 9,561 VNTRs genome-wide for effects on 786 phenotypes in…
-
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 effects of genetic variation on human phenotypes arise from protein-coding variants in previously-hidden structural polymorphisms. Structural variants (SVs) modify 50bp to megabases of DNA, yet are difficult to detect from…
-
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 excited that they have joined the lab and look forward to what we will learn together about structural and somatic variation. Welcome, Nolan and SImone!
-
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 year. Congratulations, Max!
-
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 copy number variation in the human genome, discovering many new ways in which genetic variation shapes human traits. The analyses were enabled by a new computational approach we developed that…
-
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* et al.), which identifies variable-number-of-tandem-repeat (VNTR) polymorphisms that appear to generate the strongest known contributions of any common variants to two common diseases. This collaboration with Bob Handsaker and Steve…
Research Projects or Featured Content
Team Member, Project Title or News
Subtitle
Lorem ipsum dolor sit amet, consectetur adipiscing elit. Quisque tempor sodales arcu, tempor ultricies eros lobortis a. Morbi ut hendrerit ipsum, non facilisis ante. Maecenas volutpat orci lacus, nec mattis erat varius quis. Praesent nec tempus erat. In pellentesque urna orci. Maecenas blandit laoreet lacus, sed imperdiet est placerat sit amet. Cras nec ligula at libero consequat efficitur. Fusce id dolor a nulla efficitur volutpat eget sit amet dolor.
Team Member, Project Title or News
Subtitle
Lorem ipsum dolor sit amet, consectetur adipiscing elit. Quisque tempor sodales arcu, tempor ultricies eros lobortis a. Morbi ut hendrerit ipsum, non facilisis ante. Maecenas volutpat orci lacus, nec mattis erat varius quis. Praesent nec tempus erat. In pellentesque urna orci. Maecenas blandit laoreet lacus, sed imperdiet est placerat sit amet. Cras nec ligula at libero consequat efficitur. Fusce id dolor a nulla efficitur volutpat eget sit amet dolor.
Team Member, Project Title or News
Subtitle
Lorem ipsum dolor sit amet, consectetur adipiscing elit. Quisque tempor sodales arcu, tempor ultricies eros lobortis a. Morbi ut hendrerit ipsum, non facilisis ante. Maecenas volutpat orci lacus, nec mattis erat varius quis. Praesent nec tempus erat. In pellentesque urna orci. Maecenas blandit laoreet lacus, sed imperdiet est placerat sit amet. Cras nec ligula at libero consequat efficitur. Fusce id dolor a nulla efficitur volutpat eget sit amet dolor.