News | Loh Lab

New preprint on exome imputation and fine-mapping in UK Biobank

September 01, 2020

We are excited to share a new preprint, "Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses" (Barton et al.), which reports an atlas of 1,189...

Margaux Hujoel has joined the lab!

June 29, 2020

Margaux is a postdoctoral fellow at BWH / HMS and will be developing methods for investigating the genetic architecture of complex traits and diseases. Welcome, Margaux!

Two clonal hematopoiesis papers published in Nature

June 24, 2020

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...

New preprint on mosaic copy number variants in autism

January 28, 2020

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...

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Nolan Kamitaki and Simone Rubinacci join the lab!

January 26, 2023

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...

Read More Nolan Kamitaki and Simone Rubinacci join the lab!
Maxwell Sherman receives his PhD

November 18, 2022

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

October 27, 2022

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...

Read More Paper on haplotype-informed CNV detection published in Cell
New preprint on repeat polymorphisms influencing glaucoma and colorectal cancer risk

October 14, 2022

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...

Read More New preprint on repeat polymorphisms influencing glaucoma and colorectal cancer risk
Two platform talks at ASHG 2022

August 31, 2022

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...

Read More Two platform talks at ASHG 2022
Paper on cancer mutation modeling published in Nature Biotechnology

June 20, 2022

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...

Read More Paper on cancer mutation modeling published in Nature Biotechnology

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