Download Eskin - Safra Bioinformatics Center

You are cordially invited to a talk of the Edmond J. Safra Center for
Bioinformatics Distinguished Speaker Series.
The speaker is Prof. Eleazar Eskin, Computer Science, Human Genetics,
University of California, Los Angeles.
Title: Allele Specific Expression Mapping
Time: Sunday, 25 March 2012, at 12 sharp (refreshments from 11:45)
Place: Holtzblat hall 007, Physics building, at Exact Sciences Faculty
Abstract: The study of the genetics of gene expression is of great importance to understand
the effect of genetic factors on human disease. The most widely utilized current approach to
study the relation between genetic variation and gene expression is the expression
quantitative trait loci (eQTL) study. Here we propose an alternate and complementary
approach to identifying causal mutations affecting gene expression levels by analysis of
allele specific expression (ASE). In this approach, ASE is measured in a set of individuals for
all genes and genetic variation information is obtained for each chromosome in each
individual. If we observe allele specific expression between two copies of a gene, there are
likely to be heterozygous SNPs responsible for ASE. To identify the causal mutations
responsible for ASE, we identify the genetic variants near the gene which are consistent with
the observed pattern of ASE. These variants are candidate for having an affect on
expression. Identifying causal mutations by analyzing direct measurement of ASE has
several advantages over traditional eQTL studies.The approach is more resistant to
confounding factors affecting overall levels of of expression and requires fewer individuals.
We demonstrate our method by applying allele specific expression mapping in human and
mouse. This research is joint work with Sagiv Shifman and Jake Lusis.
Host: Prof. Ron Shamir, [email protected], School of Computer Science, Tel
Aviv University.