High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

ABSTRACT: Mutation of the human genome ranges from single base-pair changes to whole-chromosome aneuploidy. Karyotyping, fluorescence in situ hybridization, and comparative genome hybridization are currently used to detect chromosome abnormalities of clinical significance. These methods, although powerful, suffer from limitations in speed, ease of use, and resolution, and they do not detect copy-neutral chromosomal aberrations--for example, uniparental disomy (UPD). We have developed a high-throughput approach for assessment of DNA copy-number changes, through use of high-density synthetic oligonucleotide arrays containing 116,204 single-nucleotide polymorphisms, spaced at an average distance of 23.6 kb across the genome. Using this approach, we analyzed samples that failed conventional karyotypic a

SUBMITTER: Slater HR 

PROVIDER: S-EPMC1271402 | biostudies-literature | 2005 Nov

REPOSITORIES: biostudies-literature