Dalla Lana School of Public Health

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Presented by CANSSI Ontario…

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

Xihao Li
Assistant Professor
Department of Biostatistics, Gillings School of Global Public Health
Department of Genetics, School of Medicine
University of North Carolina at Chapel Hill

Free Hybrid (In-person/Online) Event | Registration Required

Talk Title
Statistical and Computational Methods for Integrative Analysis of Biobank-Scale Whole-Genome Sequencing Studies

Abstract
Extensive whole-genome/exome sequencing (WGS/WES) data, combined with electronic health records from large-scale national and institutional biobanks, have provided unique opportunities to advance our understanding of the contributions of genetic variants in both coding and noncoding regions of the genome to complex human traits or diseases. In the meantime, challenges remain in analyzing biobank WGS/WES studies to maximize the utility of these rich and extensive data. In this talk, I will discuss several statistical and computational approaches for the integrative analysis of biobank WGS/WES studies from recent works, including an ancestry-informed association analysis framework by leveraging allelic heterogeneity for improved genetic discovery in multi-ancestry studies; MetaSTAAR for resource-efficient meta-analysis of sequencing data from multiple studies; MultiSTAAR for joint modeling of multiple traits to detect pleiotropic genes and regions; and RICE for polygenic risk prediction using both common and rare variants. These methods account for population structure and sample relatedness and are scalable for analyzing biobank-scale cohorts, and their applications will be illustrated using ongoing population-based WGS/WES studies, including the Trans-Omics Precision Medicine Program (TOPMed) from the National Heart, Lung and Blood Institute, the UK Biobank, and the All of Us Program from the National Institutes of Health, which have been collectively sequencing for more than 1 million genomes.

Speaker Profile
Dr. Xihao Li is an Assistant Professor in the Department of Biostatistics and the Department of Genetics, and a core faculty of the Curriculum in Biostatistics and Computational Biology at UNC-Chapel Hill. His research interests lie in developing novel statistical and machine learning methods that enable scalable and integrative analysis of large whole-genome/exome sequencing (WGS/WES) data and multi-omics data, meta-analysis of WGS/WES studies from national/international consortia and biobanks, multiple phenotype analysis to identify pleiotropic genetic effects, and prioritization of putative causal genetic variants using functional annotation data to better understand the relationships among genomic variation, genome function, and phenotypes. He has also worked on methodological projects to develop statistical approaches for rare disease clinical trials and real-world evidence studies.