Sequencing and Analysis of 10,000s of Human Genomes: Challenges and Opportunities
Rapid advances in genome sequencing and genotyping technology are enabling increasingly detailed analysis of human genetic variation. In the next year, Abecasis expects to analyze more than 50,000 deeply sequenced human genomes, corresponding to ~5 million billion bases of raw sequence data. The generation, transfer and analysis of the data presents many opportunities for scientific discovery – enabling better understanding of human history, biology and disease. It also presents varied computational and analytical challenges as well as opportunities to develop and implement new analytical strategies and modes of data sharing. Abecasis will illustrate these challenges and opportunities with examples from ongoing studies.
University of Michigan
Goncalo Abecasis, the Felix E. Moore Collegiate Professor of Biostatistics and Chair of the Department of Biostatistics, University of Michigan School of Public Health, is a leader in the genetic analysis of complex human traits. His team has developed statistical methods, computational algorithms and software that facilitate quick and accurate analysis of genetic studies of human disease. His studies, and those of other scientists using his tools, are enabling a better understanding of human genetic variation and its role in disease biology.
Abecasis has made important contributions to our understanding of conditions as diverse as heart disease, diabetes, psoriasis, and macular degeneration. Ongoing projects will result in the detailed sequencing and analysis of more than 25,000 deep human genomes over the next 12 months – an unprecedented amount of data.
Abecasis has co-authored more than 200 scientific papers publications. His other prizes and honors include: the 2014 Curt Stern Award from the American Society of Human Genetics for his contributions to the analysis and understanding of complex human traits; the 2013 Overton Prize from the International Society for Computational Biology for the tools and methods he has developed for the analysis of increasingly large datasets; the 2008 University of Michigan School of Public Health Research Excellence Award; and, a 2005 Pew Charitable Trusts Award as a promising young biomedical researcher. Just in the past five years, his publications have been referenced more than 50,000 times by other scientists, placing him near the top of Thomson Reuters listing of the world’s most cited scientists in 2009, 2011 and 2012.
Abecasis received his B.Sc. in genetics from the University of Leeds in 1997, and a D.Phil. in Human Genetics from the University of Oxford in 2001, the same year he joined the faculty at University of Michigan. He currently leads the University’s outstanding Biostatistics Department, which is training a new generation of scientists and making contributions to the statistical and computational machinery for the analysis of diverse types of biomedical data – including not only genomic data, but also electronic health records, registry data and health surveys, a variety of imaging data types, and environmental exposures, among others.
To read more about Goncalo Abescasis research, please visit: Google Scholar – Goncalo Abescasis