Population-Scale Discovery of Genetic Risk Factors
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This month's presentation is on the recent AJHG paper, “Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans." Attendees will have the opportunity to ask questions in a live Q&A session.
Overview of Presentation
- Recognize that shared haplotypes enable the detection of relatedness within populations
- Analyze population-scale interrogation of shared genetic risk for human disease
- Summarize the benefits of integrating genomics data into health systems records
To read the full paper, check the Journal Paper tab.
Gillian Belbin, PhD
Institute for Genomic Health
Dr. Gillian Belbin is an Assistant Professor in the Institute for Genomic Health. Her research focuses on the link between genetics, ancestry, and disease to address fundamental questions in precision medicine. Her work has involved leveraging large-scale, Electronic Health Record (EHR)-linked genomic datasets in diverse populations in New York City to explore the impact of evolutionary history and population structure on disease outcomes. Specifically, she focuses on developing methods and software that leverage recent, shared genealogy in the form of Identity-by-Descent (IBD) sharing in order to detect and characterize fine-scale genetic ancestry in large datasets of diverse populations linked to EHR data.
Eimear Kenny, PhD
Professor of Medicine and Genetics
Icahn School of Medicine at Mount Sinai
Dr. Eimear Kenny, PhD, is a Professor of Medicine and Genetics, and the Founding Director of the Institute for Genomic Health, at the Icahn School of Medicine at Mount Sinai. She is a statistical and population geneticist. She leads a multidisciplinary team of geneticists, computer scientists, clinicians, and other medical professionals, working on problems at the interface of genetic ancestry, massive-scale genomics and medicine. Her goal is to accelerate the integration of genomics into clinical care, particularly in diverse and underserved populations. She is Principal Investigator in 6 large national programs focused on genomic research, medicine and health, and is in the top 20 NIH-funded genomics researchers in the US. She is a scientific advisor to many genomic and genomic medicine initiatives in government, non-profit and industry arenas. She has published over 100 papers in leading journals like Science, Nature, Nature Genetics, NEJM, with over 15,000 citations, and her work has been featured by many media outlets including the New York Times. She has a BA in Biochemistry from Trinity College Dublin, a PhD in computational genomics from Rockefeller University, and did her postdoctoral training in population genetics at Stanford University.
Bruce Korf, MD, PhD (Moderator)
American Journal of Human Genetics
Chief Genomics Officer, UAB Medicine
Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics UAB