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PQG Seminar

April 23 @ 1:00 pm - 2:00 pm

Seunggeun ‘Shawn’ Lee

Adjunct Professor, Biostatistics
University of Michigan

Rare variant association analysis

Rare variants significantly impact complex diseases. This presentation will first introduce SAIGE-GENE and SAIGE-GENE+, methodologies extending SAIGE to gene/region-based rare variant tests. These methods efficiently utilize mixed effects models to adjust for sample relatedness and saddlepoint approximations to account for case-control imbalance. SAIGE-GENE+ additionally incorporates functional annotations and collapsing of ultra-rare variants that can help to improve type I error control and power. In the second part of the talk, I will introduce our recent work to estimate effect sizes of rare variants. The method, RareEffect, uses an empirical Bayesian approach that estimates gene/region-level heritability and then an effect size of each variant. We also show the effect sizes obtained from our model can be leveraged to improve the performance of polygenic scores.



Date: April 23
Time: 1:00 pm - 2:00 pm
Calendars: Lecture / Seminar


In Person


Amanda King