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Penn Bioinformatics Forum – Eimear Kenny, PhD
December 6, 2017 @ 3:00 pm - 4:00 pm
Population Genomics in an Era of Precision Medicine
Eimear Kenny, Ph.D.
Assistant Professor in Genetics and Genomic Sciences
Icahn School of Medicine at Mount Sinai
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe approaches leveraging population-scale statistical genetics to identify and characterize genetic disorders in a large health system in New York City. First we utilize genomic data to uncover components of distant pedigrees via haplotypes shared identical-by-descent. Using machine learning methods for community detection we find that >80% participants are members of >100 distinct communities enriched for IBD sharing reflecting recent shared ancestry at country and regional levels. We show that some communities are significantly enriched for EHR derived ICD-9 billing codes, recapitulating known differential prevalence’s of disease, and indicating unreported community-specific disease risks that may be due to shared genetic or environmental factors. We characterize signatures of founder effects in these communities and show that 35% of communities show elevated levels of IBD sharing. Finally, by linking to medical records in these founder populations, we discover loci associated with genetic relatedness are important to understand the pathology of genetic disorders, leading to a better understanding of the continuum of complex and Mendelian disease.
Reception to follow.