Midsummer Nights' Science: Using big data to understand rare diseases (2016)

Using big data to understand rare diseases
Daniel MacArthur
Institute Member, Broad Institute;
Assistant Professor, Harvard Medical School

More than one million humans have now had their DNA sequenced, providing tremendous amounts of information on the patterns of genetic variation across the human population. This talk will outline the Broad Institute’s efforts to create massive genetic databases and describe how these data can be used to understand human genes and the causes of rare, severe diseases.

Daniel MacArthur
Daniel MacArthur is the Co-Director of the Broad Institute's Program in Medical and Population Genetics, and of the Institute's Joint Center for Mendelian Genomics. His research focuses on the development of extremely large databases of human genetic variation and the application of these databases along with new genomic techniques to improve the diagnosis of patients with rare diseases.

Copyright Broad Institute, 2016. All rights reserved.