Stephen Schaffner

Stephen Schaffner is a computational biologist in the Program in Medical and Population Genetics at the Broad Institute, where he studies genetics of humans and the malaria parasite.

He often focuses on detecting cases of positive natural selection, where a given trait is beneficial for the organism and is therefore selected for in the population. Schaffner performs computer simulations of genetic variation and studies the history of human demographics. He also works to understand linkage disequilibrium, a term used in the field of population genetics to describe a combination of genetic markers that occurs more or less often than expected. These studies can aid the search for genetic markers linked to traits or disease.

Schaffner joined the Whitehead Institute in 1999 and later the Broad. He earned a Ph.D. in experimental particle physics from Yale University.
 

Select Publications

Van Tyne D, et al. Identification and functional validation of the novel antimalarial resistance locus PF10_0355 in Plasmodium falciparum. PLoS Genet. 2011 Apr;7(4):e1001383.

Grossman SR, et al. A composite of multiple signals distinguishes causal variants in regions of positive selection. Science. 2010 Feb 12;327(5967):883-6.

Schaffner SF, et al. Calibrating a coalescent simulation of human genome sequence variation. Genome Res. 2005 Nov;15(11):1576-83.
 

Last updated date: July 2012