Search

Search results

17 results found

Upcoming talk on mosaic chromosomal alterations

News: February 06, 2019

Po-Ru Loh will be speaking about phase-based detection of mosaic chromosomal alterations at the Gordon Research Conference on Quantitative Genetics and Genomics on Tue 2/12.

Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritability

Publication: Journal Article

Geijn, Bryce, Hilary Finucane, Steven Gazal, Farhad Hormozdiari, Tiffany Amariuta, Xuanyao Liu, Alexander Gusev, et al. 2019. “Annotations Capturing Cell-Type-Specific TF Binding Explain a Large Fraction of Disease Heritability”. Hum Mol Genet.

Talks and posters from our group at ASHG 2019

News: October 16, 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...

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Publication: Journal Article

Warrington, Nicole, Robin Beaumont, Momoko Horikoshi, Felix Day, Øyvind Helgeland, Charles Laurin, Jonas Bacelis, et al. 2019. “Maternal and Fetal Genetic Effects on Birth Weight and Their Relevance to Cardio-Metabolic Risk Factors”. Nat Genet 51 (5): 804-14.

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...

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"