Cancer Biostatistics Monthly Seminar

Scalable Integrative Analysis of Large Biobank and Population-Based Whole Genome Sequencing Studies With Multi-Omics Data

Xihong Lin, PhD

Professor and former Chair of the Department of Biostatistics,
Coordinating Director of the Program in Quantitative Genomics 
Professor of the Department of Statistics
Harvard University
Associate Member of the Broad Institute of Harvard and MIT

The Meeting will be held via Zoom.

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Meeting ID: 885 8425 0027

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Meeting ID: 885 8425 0027

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Abstract:

Whole Genome/Exome Sequencing (WGS/WES) data and Electronic Health Records (EHRs), such as large-scale national and institutional biobanks, have emerged rapidly worldwide.  In this talk, I will discuss the analytic tools and resources for scalable analysis of large-scale biobank- and population-based Whole Genome Sequencing (WGS) association studies of common and rare variants by integrating WGS data with multi-faceted functional annotation data. Discussions include fitting mixed models for continuous and discrete and survival phenotypes using sparse GRM in population and biobank-based studies, and rare variant association tests and meta-analysis by incorporating multi-faceted variant functional annotations using individual-level data and WGS summary statistics. I will also provide a demo of FAVOR (favor.genohub.org), a variant functional annotation online portal and resource that provides multi-faceted functional annotations of genome-wide 9 billion variants, and FAVORAnnotator, a tool to functionally annotate any WGS/WES studies. Cloud-based platforms for these resources will be discussed. The presentation will be illustrated using ongoing large-scale population-based whole genome sequencing studies and biobanks of quantitative, case-control, and time-to-event phenotypes, including the Genome Sequencing Program (GSP) of the National Human Genome Research Institute and the Trans-Omics Precision Medicine Program (TOPMed) from the National Heart, Lung and Blood Institute, and the UK Biobank and FinnGen, which have collectively sequenced about 1 million genomes.

The meeting agenda includes a presentation, programmatic announcements, and updates from Cancer Center program leaders.

This group meets once a month from Noon – 1 p.m.