Abstract

The Affymetrix GeneChip(R) Human Exon 1.0 ST array (exon array) is designed to measure both gene-level and exon-level expression in human samples. This exon array contains approximately 1.4 million probesets consisting of approximately 5.4 million probes and profiles over 17,000 well-annotated gene transcripts in the human genome. As with all expression arrays, the exon array is vulnerable to SNPs within probes, because these SNPs can affect the hybridization of the probes and thus produce misleading expression values. In some cases, this could result in dramatic fluctuations of the exon-level expression. For this reason, we performed a genome-wide search for SNPs within regions that hybridize to probes by evaluating approximately 18 million SNPs in dbSNP (Build 129) and about 5.4 million probes in the exon array. We identified 597,068 probes within 350,382 probe sets that hybridized to regions containing SNPs. These affected probes and/or probesets can be filtered in the data processing procedure thus controlling for potential false expression phenotypes when using this exon array. AVAILABILITY: http://cid-fb2a64e541add2be.skydrive.live.com/browse.aspx/Affy%7C_HuEx%7C_1.0ST?uc=2.