MIT Electrical Engineering and Computer Science EECS Event

Predicting the Functional Consequences of Some Common Genetic Variation in Humans

Daniel Chasman, PhD.
Variagenics

Tuesday, October 30, 2001
4:00 PM (reception following)
Room 35-225
LIDS Colloquium

Abstract

Even as the draft of the human genome is being refined, a second initiative is underway to determine the extent and nature of the most prevalent form of genetic variation in human populations, namely single nucleotide polymorphisms or SNPs. In addition to providing a description of human genetic diversity, this new analysis finds application in identifying the basis of complex genetic traits, ranging from genetic disease to the response to pharmaceuticals. We have developed a computational and structure-based method for anticipating whether a SNP that alters the amino acid sequence of a protein is likely to affect the protein's biological function. Our results suggest that an appreciable fraction, perhaps 20-30%, of amino acid-changing SNPs can be expected to affect protein function.=20 Together with initial estimates of the extent of human sequence diversity, our results imply that the genome of every person encodes on the order of a few thousand of genetic differences that affect protein function.