Northwestern University

Tue 12:00 PM

BIDS Seminar: Matthew Dapas - Student Presentation (New Genomic Research in Polycystic Ovary Syndrome - PCOS)

recurring see all events in this series

When: Tuesday, February 13, 2018
12:00 PM - 1:00 PM  

Where: Arthur Rubloff Building, Lakeview Conference Room (11th Floor), 750 N Lake Shore Dr, Chicago, IL 60611 map it

Audience: Faculty/Staff - Student - Post Docs/Docs - Graduate Students

Contact: Lindsay Varasteh   312.503.1997

Group: Center for Data Science and Informatics (CDSI)

Category: Lectures & Meetings


Genome-wide association studies (GWAS) have identified tens of thousands of genetic variants associated with increased risk of developing various common and complex diseases, such as heart disease and diabetes, but these variants typically account for only a small fraction of genetic heritability. A number of factors may be contributing to this “missing heritability”, including omnigenicity, disease heterogeneity, and rare variants. In this talk I will present new genomic research in polycystic ovary syndrome (PCOS), a complex, heterogeneous disease that affects 6-10% of premenopausal women worldwide and is a leading cause of infertility. Using whole genome sequencing data from 76 families affected by PCOS, we applied a number of innovative methods to identify whether rare variants and disease heterogeneity can account for the missing heritability observed in PCOS. Our findings provide new insights into the etiology of PCOS and to the study of common, complex diseases in general.

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