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Ronen E. Mukamel

Person: Instructor, Harvard Medical School

My current research focus is on structural variation in human genomes and the impact of structural variants on human health. My background is in pure mathematics, specifically the geometry of surfaces and billiards in polygons. When I am not engaged in research, I prefer to be walking up a mountain...

Nolan Kamitaki

Person: Ph.D. Student, Harvard Medical School Bioinformatics and Integrative Genomics (BIG)

Nolan is a PhD student in the Bioinformatics and Integrative Genomics (BIG) program at HMS. He previously studied statistics and computer science at Harvard University. His interests span the development and application of computational and molecular approaches to understanding how genetic variation...

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Hello world!

News: August 01, 2017

Po-Ru Loh has started a faculty position at Brigham and Women's Hospital / Harvard Medical School.

ASHG 2017 Epstein Award

News: October 26, 2017

Po-Ru Loh's plenary talk at ASHG 2017 won an Epstein Trainee Award for Excellence in Human Genetics!

Upcoming talks on phasing and mosaicism

News: October 08, 2018

Po-Ru Loh will be speaking about haplotype phasing and mosaic chromosomal alterations at 23andMe (Thu 10/11), ASHG 2018 (Wed 10/17, platform talk #17 at 9am), and Michigan (Tue 10/23).

Two new preprints on clonal hematopoiesis

News: May 31, 2019

We have released two preprints exploring mosaic chromosomal alterations in UK Biobank ( N~500K; Loh et al. bioRxiv) and BioBank Japan ( N~200K; Terao et al. bioRxiv). Highlights of these studies include discovery of several new risk loci at which acquired mutations systematically duplicate inherited...

Clonal mosaicism work featured on NIH Director's Blog

News: October 03, 2019

Our work using computational techniques to explore mosaic copy-number mutations found in small fractions of cells was featured on the NIH Director's Blog: " Finding New Genetic Mutations Amid Healthy Cells"

New preprint on large-effect protein-coding repeat polymorphisms

News: January 20, 2021

We are excited to share a new preprint, " Protein-coding repeat polymorphisms strongly shape diverse human phenotypes" (Mukamel*, Handsaker* et al.), which finds that some of the largest effects of common genetic variants on human phenotypes arise from variable-number-of-tandem-repeat (VNTR)...

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

News: 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 rare coding variants likely to causally influence 54 quantitative traits in UK Biobank. This analysis...