Allelic dosage analysis with genotyping microarrays.
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.
Ishikawa
Shumpei
S
Genome Science Division, Research Center for Advanced Science and Technology, University of Tokyo, 4-6-1 Komaba, Meguro-ku, Tokyo 153-8904, Japan.
Komura
Daisuke
D
Tsuji
Shingo
S
Nishimura
Kunihiro
K
Yamamoto
Shogo
S
Panda
Binaya
B
Huang
Jing
J
Fukayama
Masashi
M
Jones
Keith W
KW
Aburatani
Hiroyuki
H
D000465:Algorithms; D002874:Chromosome Mapping / Q000379:methods*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D004314:Down Syndrome / Q000235:genetics*; D005240:Feasibility Studies; D018628:Gene Dosage; D005787:Gene Frequency / Q000235:genetics*; D005838:Genotype; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity