Allelic dosage analysis with genotyping microarrays

Shumpei Ishikawa; Daisuke Komura; Shingo Tsuji; Kunihiro Nishimura; Shogo Yamamoto; Binaya Panda; Jing Huang; Masashi Fukayama; Keith W Jones; Hiroyuki Aburatani

doi:10.1016/j.bbrc.2005.06.040

Allelic dosage analysis with genotyping microarrays

Biochem Biophys Res Commun. 2005 Aug 12;333(4):1309-14. doi: 10.1016/j.bbrc.2005.06.040.

Authors

Shumpei Ishikawa¹, Daisuke Komura, Shingo Tsuji, Kunihiro Nishimura, Shogo Yamamoto, Binaya Panda, Jing Huang, Masashi Fukayama, Keith W Jones, Hiroyuki Aburatani

Affiliation

¹ Genome Science Division, Research Center for Advanced Science and Technology, University of Tokyo, 4-6-1 Komaba, Meguro-ku, Tokyo 153-8904, Japan.

PMID: 15982637
DOI: 10.1016/j.bbrc.2005.06.040

Abstract

Genomic alternations, including dosage and allelic imbalance, constitute a major basis of neoplastic and other genetic disorders. Using oligonucleotide genotyping microarrays, here we report the development and usage of an algorithm, called genome imbalance map (GIM) algorithm, for allelic as well as total gene dosage analysis. Using the GIM algorithm, global genome imbalance status at over 100,000 loci was simultaneously analyzed with unprecedented accuracy and allelic discrimination.

Publication types

Evaluation Study
Research Support, Non-U.S. Gov't

MeSH terms

Algorithms*
Chromosome Mapping / methods*
Chromosomes, Human, Pair 21 / genetics*
DNA Mutational Analysis / methods
Down Syndrome / genetics*
Feasibility Studies
Gene Dosage*
Gene Frequency / genetics*
Genotype
Humans
In Situ Hybridization / methods
Oligonucleotide Array Sequence Analysis / methods*
Polymorphism, Single Nucleotide / genetics
Reproducibility of Results
Sensitivity and Specificity