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ASHG 2017 plenary talk + Epstein Award finalist

Po-Ru Loh's abstract on clonal hematopoiesis in the UK Biobank (with key collaborator Giulio Genovese) has been selected for a plenary talk at the 2017 American Society of Human Genetics (ASHG) conference and as a finalist for the Charles J. Epstein Trainee Awards.

Po-Ru Loh receives NIH Director's New Innovator Award

Po-Ru Loh has been selected for a 2018 NIH Director's New Innovator Award, which supports "unusually innovative research from early career investigators." The proposed project (" Revealing Somatic Genome Alterations and Their Clinical Sequelae: Ultrasensitive Computational Detection of Mosaic...

Talks and posters from our group at ASHG 2019

At ASHG this year, Max Sherman will be speaking about his work on mosaic CNVs in autism (Thu 10/17 at 9:45am, #105) and Po-Ru Loh will be speaking about his work on clonal hematopoiesis in UK Biobank (Sat 10/19 at 10:45am, #343). Ronen Mukamel and Alison Barton will be presenting posters exploring...

UK Biobank clonal hematopoiesis paper published in Nature

Our work on mosaic chromosomal alterations in the UK Biobank N=150K interim release has been published in Nature! This study used long-range haplotype phasing information to detect mosaicism in blood at very low clonal fractions (down to ~1%), producing an atlas of 8,342 mosaic events. The...

Margaux Hujoel has joined the lab!

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!

Paper on cancer mutation modeling published in Nature Biotechnology

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...

Two platform talks at ASHG 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 traits and diseases that were revealed by statistical haplotype-sharing models. Ronen and Margaux were...

New preprint on phenotypic impacts of rare copy number variants

We are excited to share a new preprint, " Influences of rare copy number variation on human complex traits" (Hujoel et al.), which explores the phenotypic impact of rare copy number variation in the human genome, discovering many new ways in which genetic variation shapes human traits. These...