Overview of Rare Variant Analysis in Whole Genome Sequencing Association Studies

Explore an in-depth overview of rare variant analysis in whole genome sequencing association studies through this 39-minute conference talk by Xihong Lin at the Computational Genomics Summer Institute (CGSI) 2022. Delve into advanced statistical methods and study designs for detecting associations with rare variants in common diseases. Examine key concepts such as the Sequence Kernel Association Test (SKAT) and the Aggregated Cauchy Association Test (ACAT) for p-value combination in sequencing studies. Gain insights into the dynamic incorporation of multiple in silico functional annotations to empower rare variant analysis in large-scale whole-genome sequencing studies. Learn about cutting-edge approaches that enhance the power and efficiency of rare variant association testing, drawing from seminal papers in the field of human genetics and genomics.