Whole Genome Sequencing Analysis: Comprehensive Capture of Genetic Variants

Harvard University, Cambridge MA

Investigators

Abstract

The Program in Quantitative Genomics (PQG) at Harvard T.H. Chan School of Public Health is hosting the 2016 conference, "Whole Genome Sequencing Analysis: Comprehensive Capture of Genetic Variants", to be held November 3-4, 2016 at the Joseph B. Martin Conference Center at Harvard Medical School in Boston, MA. This is the tenth in a very successful conference series on emerging statistical and computational issues in genetics and genomics. The explosion of massive information about the human genome, including Whole Genome Sequencing data, presents extraordinary challenges in data processing, integration, analysis, and interpretation of results. A large number of Whole Genome Sequencing (WGS) samples are being generated by the community through the Genome Sequencing Program of the National Human Genome Research Institute, the TopMED Program of the National Heart, Lung and Blood Institute, and the Precision Medicine Initiative. Analysis of WGS data requires integration of statistical genetics and genomics, computational biology and population genetics, and existing statistical and computational techniques are not directly applicable. There is a critical need to discuss emerging quantitative issues at the forefront of scientific exploration, and to promote the development of innovative and scalable statistical and computational methods for analyzing massive whole genome sequencing data. The conference is open to the whole research community and particularly encourages participation of junior faculty and researchers, postdoctoral fellows, students, and women and minorities. The participants will discuss and critique existing quantitative methods, discuss in-depth emerging statistical and quantitative issues, and identify priorities for future research in the analysis of WGS data. The research presented will be broadly disseminated in publications in scientific journals and websites. The conference will focus on the following three topics of critical importance in whole genome sequencing analysis: (1) path to genomics; (2) scaling up phenotypes; (3) new horizons in population genetics. The first topic discusses statistical and computational methods for rare variant analysis by incorporating functional and regulatory information. The second topic discusses analysis of multiple phenotypes to boost the power for association, and to understand how different phenotypes relate genetically and reveal causal pathways. The third topic discusses new opportunities in population genetics, and the use of this knowledge in understanding human disease biology and etiology. A key feature of the conference is to provide a timely and interactive platform for cross-disciplinary senior and junior investigators, including statistical geneticists, computational biologists, population geneticists, genetic epidemiologists, molecular biologists, and clinical scientists, to discuss these analytic challenges for WGS data. For more information, visit https://www.hsph.harvard.edu/2016-pqg-conference/ .