Dalla Lana School of Public Health

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Join us for the next instalment of the STAGE International Speaker Seminar Series (ISSS) with

Josée Dupuis
Professor and Chair, Department of Epidemiology, Biostatistics and Occupational Health
Strathcona Chair in Epidemiology
McGill University

Free Online Event | Registration Required

Talk Title
Exploiting Family History Information to Detect Rare Variant Associations

Abstract
The growing availability of sequencing data has enabled the investigation of the role of rare variants in disease etiology. However, detecting associations with rare variants or groups of rare variants requires large sample sizes for adequate power, especially for late-onset diseases, when the number of cases in cohorts of younger participants may be low. Family history (FH) contains information on the disease status of relatives, adding valuable information about the probands’ health problems and risk of diseases. Incorporating data from FH is a cost-effective way to improve statistical evidence in genetic studies and overcome limitations in study designs with insufficient cases. We proposed a family history aggregation unit-based test (FHAT) and optimal FHAT (FHAT-O) to exploit available FH for rare variant association analysis. We also proposed a robust version of FHAT and FHAT-O for unbalanced case-control designs. By applying FHAT and FHAT-O to the analysis of all-cause dementia and hypertension using the exome sequencing data from the UK Biobank, we show that our methods can improve significance for known regions.

Speaker Profile
Josée Dupuis, PhD, is the Strathcona Chair in Epidemiology and chair of the Department of Epidemiology, Biostatistics and Occupational Health at McGill University. Prior to joining McGill in 2022, she spent close to 20 years on the faculty at Boston University School of Public Health where she was Chair of Biostatistics. Her research focuses on the development of statistical methods for genome-wide association, rare variant analysis, gene-environment interaction assessment, multi-omics integration, fine mapping and co-localization approaches, and their applications to diabetes and lung disease. Professor Dupuis is a Fellow of the American Statistical Association (ASA), of the American Association for the Advancement of Science (AAAS), and of the Institute of Mathematical Statistics (IMS). She served as President of the International Genetic Epidemiology Society in 2016. She was honored with the International Genetic Epidemiology Leadership Award in 2019 for her substantial contributions to the field and her service to the Society, and received the 2020 American Society of Human Genetics Mentorship Award. Professor Dupuis holds a B.Sc. in Statistics from Concordia University and a M.Sc. and Ph.D. in Statistics from Stanford University.