The
pervasive effect of genetic variation on medically important phenotypes
provides a means for dissecting their underlying mechanisms by
identifying variants that are associated with traits of interest.
Current trends in human genetics now facilitate, for the first time,
pursuing this potential by execution of large scale studies that scan
the entire genome for potentially associated variants. Specifically, the
talk will present
(1)
The International HapMap Project,
a data resource we participated in developing to enable genomewide
association studies, and what our analyses of these data tell us about
human variation.
(2)
The current generation of SNP
array technology, and how computation and statistics improvements allow
it to cover the majority of common human variants.
(3)
The tale of an isolated population
in Micronesia, where we show association scans are more promising than
elsewhere, though we expose practical complexities of real data and the
computational challenges they present.
Some of the research presented was performed as part of the
International HapMap Analysis Team, or in collaborations with Affymetrix
Inc. and the Friedman lab at Rockefeller University.