Dissecting the role of tandem repeats in complex human phenotypes

Speaker: Melissa Gymrek , University of California San Diego

Date: Wednesday, March 17, 2021

Time: 11:30 AM to 1:00 PM Note: all times are in the Eastern Time Zone

Public: Yes

Location: Zoom: https://mit.zoom.us/j/91842580282

Event Type: Seminar

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Host: Bonnie Berger, CSAIL & Mathematics

Contact: Patrice Macaluso, 617-253-3037, macaluso@csail.mit.edu

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Reminders to: seminars@csail.mit.edu, bioinfo-seminar@lists.csail.mit.edu, bergerlab-core@mit.edu

Reminder Subject: TALK: Dissecting the role of tandem repeats in complex human phenotypes

Tandem repeats (TRs) are one of the largest sources of genetic variation across human populations and are well known to contribute to human phenotypes. Still, large genome sequencing efforts have focused mainly on point mutations (single nucleotide polymorphisms [SNPs] or small indels), and the contribution of more complex variant types remains largely unexplored. To address this issue, we and others have developed a suite of bioinformatics methods for genotyping TRs at population scale, identifying de novo mutations, and analyzing their contribution to human phenotypes. We have leveraged these tools to characterize genome-wide properties of TR variation and mutation in human populations. Our results reveal thousands of TRs likely implicated in expression of nearby genes and complex traits including height and schizophrenia. Finally, we demonstrate an excess of de novo mutations at TRs in individuals affected by autism spectrum disorders compared to undiagnosed siblings. This burden is strongest for mutations resulting in rare TR alleles predicted to be under negative selection (RR=2.86). Overall, our results indicate a significant contribution of TR mutations to ASD and demonstrate that incorporating TRs into future genome-wide studies of ASD and other traits will greatly expand the repertoire of genetic variation considered in large sequencing efforts.

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Created by Patrice Macaluso Email at Wednesday, March 10, 2021 at 2:23 PM.