“What is our study population? Population concepts and impacts of sample design on human genetic studies ”
Zoom and In-person: 622 West 168th St. PH20-200
John Novembre, Ph.D.
Professor of Human Genetics
Professor of Ecology and Evolution, University of Chicago
The notion of a study population is central in human genetic studies, and yet population concepts are often imperfect as populations are rarely bounded clear entities. In this talk, Dr. Novembre will review some of the challenges regarding the choice and use of populations descriptors in genetics and genomics, including the recent NASEM report on the topic. Dr. Novembre will also present new work on a theoretical model of a spatially structured population where we have investigate the effect of changing the sampling design on the number of variants discovered and their frequencies. The results have relevance for the statistical power expected from Biobank-scale studies related genotype to phenotype and for biases that can arise in population genetic inferences of the fitness effects of deleterious variants.
This event is hosted as part of the seminar series featuring leaders in precision medicine from across the nation. Co-presented by the Center for Precision Medicine and Genomics, the Columbia Precision Medicine Initiative, and the Precision Medicine Resource of the Irving Institute for Clinical and Translational Research. This event is supported in part by a gift from Pfizer to Columbia.
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