Steven McCarroll (Harvard University)
MolBio Seminar Series
Steve McCarroll is a professor in the Genetics Department of Harvard Medical School. He is the Director of Genetics at the Stanley Center for Psychiatric Research at the Broad Institute.
Steve was a Ph.D. student in Cori Bargmann’s lab (genetics and neuroscience in C. elegans) at U.C. San Francisco, then a postdoc in David Altshuler’s lab (human genetic polymorphism and the genetic basis of complex phenotypes) at MGH and the Broad Institute.
Where is the rest of the human genome?
Whole-genome sequencing is increasingly used to search for genetic variants underlying human disease. In this seminar, I will describe ways in which every sequencing experiment can also be used to teach us surprising things about how genomes work in everyone. First, there is extensive human genome sequence that is missing from maps of the human genome – but using a combination of mathematics and historical mixtures of human populations, we learned where these genes have been hiding and how they have remained hidden from view. Second, we find that some regions of the human genome segregate in many different structural forms within human populations, an "extreme" form of structural variation that is contributing to human phenotypes. Third, we developed ways to use whole genome sequence data to study active processes of DNA replication in human cells, with a surprising finding about how DNA replication varies from person to person.
Free and open to the university community and the public