RT Journal
A1 Ge, Bing
A1 Gurd, Scott
A1 Gaudin, Tiffany
A1 Dore, Carole
A1 Lepage, Pierre
A1 Harmsen, Eef
A1 Hudson, Thomas J.
A1 Pastinen, Tomi
T1 Survey of allelic expression using EST mining
JF Genome Research 
JO Genome Research 
YR 2005 
FD November 01 
VO 15 
IS 11 
SP 1584 
OP 1591 
DO 10.1101/gr.4023805 
UL http://genome.cshlp.org/content/15/11/1584.abstract 
AB Cis-acting allelic variation in gene regulation is a source of phenotypic variation. Consequently, recent studies have experimentally screened human genes in an attempt to initiate a catalog of genes possessing cis-acting variants. In this study, we use human EST data in dbEST as the source of allelic expression data, and the HapMap database to provide expected allele frequencies in human populations. We demonstrate a greater concordance of allele frequencies estimated from human ESTs in dbEST with those derived from the CEPH HapMap sample representing Caucasians from northern and western Europe, than population samples obtained in Asia and Africa. Deviations between allele frequencies observed in EST databases and the ones obtained from the CEPH HapMap samples may result from common heritable cis-acting variants altering the relative allele distribution in RNA. We provide in silico as well as experimental evidence that this strategy does allow significant enrichment of genes harboring common heritable cis-acting polymorphisms in linkage disequilibrium with expressed alleles.