Events & Calendars Statistics and Data Science Colloquium: "Statistical and Computational Methods for Whole-Genome Sequencing Studies," Dr. Sheila Gaynor

Many complex diseases have a notable genetic component; however, for most diseases and traits, a limited number of associated genetic variants have been identified. Current large-scale whole-genome sequencing efforts allow for the analysis of genetic associations across millions of low-frequency and rare variants using large samples (100K+). To analyze rare variants, variance component tests aggregating multiple variants are commonly implemented to improve statistical power. However, such generalized mixed model-based methods are nonetheless limited by low statistical power and significant computational cost.

In this talk, I discuss methods for rare variant tests to analyze large samples incorporating functional data in a dynamic weight scheme to improve power. I introduce cloud-based computational tools that implement such methods using a scalable framework. Lastly, I discuss the application of these methods to analyze data on heart, lung, blood and sleep disorders from the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program.