ISCB 2013 Overton Prize Award

Goncalo Abecasis

Center for Statistical Genetics, Department of Biostatistics,
University of Michigan School of Public Health, United States


Presentation Title: Insights from Sequencing Thousands of Human Genomes

Presentation Time: Sunday, July 21 4:35 PM - 5:35 PM

 Room: Hall 1





Identifying and characterizing the genetic variants that affect human traits is one of the central objectives of human genetics. Ultimately, this aim will be achieved by examining the relationship between interesting traits and the complete genome sequences of many individuals. Whole genome re-sequencing of thousands of individuals remains challenging, but advances in laboratory methods and in statistical methodology have resulted in substantial progress in our understanding of complex disease biology.
Here, we discuss results of the first generation of large scale sequencing studies. I illustrate findings from analysis of sequence data in 1,000s of individuals and, in particular, on the insights from two studies where my group is actively involved, a case-control study of age-related macular degeneration and an ongoing population sequencing study in the island of Sardinia. Along the way, I will highlight analytical challenges and opportunities posed by next-generation sequence data - ranging from methods for the analysis of low-coverage data, to strategies for estimating individual ancestry using sequence data, to methods for combining the results of sequencing studies across samples.



Gonçalo Abecasis is the Felix Moore Collegiate Professor of Biostatistics at the University of Michigan School of Public Health, where he has been a faculty member since 2001. He has a Ph.D. in Human Genetics from the University of Oxford, where he worked with William Cookson and Lon Cardon.
Dr. Abecasis' research focuses on the development of statistical tools and computational methods that enable studies of genetic variation and its connections to human disease. Software and algorithms developed by Dr. Abecasis are used in human genetic studies around the world. He has made important contributions to our understanding of patterns of genetic variation across the genome, its relationship to a variety of complex traits and diseases, and developed algorithms that enable analysis of large challenging datasets. He is currently deploying next-generation sequencing technologies to study the genomes of thousands of individuals.