RT Journal A1 Mei, Rui A1 Galipeau, Patricia C. A1 Prass, Cynthia A1 Berno, Anthony A1 Ghandour, Ghassan A1 Patil, Nila A1 Wolff, Roger K. A1 Chee, Mark S. A1 Reid, Brian J. A1 Lockhart, David J. T1 Genome-wide Detection of Allelic Imbalance Using Human SNPs and High-density DNA Arrays JF Genome Research JO Genome Research YR 2000 FD August 01 VO 10 IS 8 SP 1126 OP 1137 DO 10.1101/gr.10.8.1126 UL http://genome.cshlp.org/content/10/8/1126.abstract AB Most human cancers are characterized by genomic instability, the accumulation of multiple genetic alterations and allelic imbalance throughout the genome. Loss of heterozygosity (LOH) is a common form of allelic imbalance and the detection of LOH has been used to identify genomic regions that harbor tumor suppressor genes and to characterize tumor stages and progression. Here we describe the use of high-density oligonucleotide arrays for genome-wide scans for LOH and allelic imbalance in human tumors. The arrays contain redundant sets of probes for 600 genetic loci that are distributed across all human chromosomes. The arrays were used to detect allelic imbalance in two types of human tumors, and a subset of the results was confirmed using conventional gel-based methods. We also tested the ability to study heterogeneous cell populations and found that allelic imbalance can be detected in the presence of a substantial background of normal cells. The detection of LOH and other chromosomal changes using large numbers of single nucleotide polymorphism (SNP) markers should enable identification of patterns of allelic imbalance with potential prognostic and diagnostic utility.