Po-Ruh Lo, PhD: Insights into Genetic Mosaicism Through the Lens of Statistical Phasing

Date: 

Monday, May 13, 2019, 4:00pm to 5:00pm

Location: 

Ramzi Cotran Conference Center Amory 3, 75 Francis Street, Brigham and Women’s Hospital
Po-Ruh Loh

Po-Ru Loh, PhD
Assistant Professor, Harvard Medical School

Abstract

Mosaicism in genetics refers to the state in which cells of a single individual belong to two or more sub-populations with distinct genotypes. Mosaicism can arise either through mutations early in development, or through mutations later in life that subsequently undergo clonal expansion (e.g., cancer). In this talk, I will present new statistical methods that leverage population-based haplotype phasing to enable detection of mosaic chromosomal alterations present at very low cell fractions. I will describe insights into the causes and consequences of age-related clonal hematopoiesis revealed by this approach and discuss applications to mosaicism in other tissues.

See also: ABCSeries