Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.

TitleAnalysis and visualization of chromosomal abnormalities in SNP data with SNPscan.
Publication TypeJournal Article
Year of Publication2006
AuthorsTing JC, Ye Y, Thomas GH, Ruczinski I, Pevsner J
JournalBMC bioinformatics
Volume7
Pagination25
Date Published2006
Abstract

A variety of diseases are caused by chromosomal abnormalities such as aneuploidies (having an abnormal number of chromosomes), microdeletions, microduplications, and uniparental disomy. High density single nucleotide polymorphism (SNP) microarrays provide information on chromosomal copy number changes, as well as genotype (heterozygosity and homozygosity). SNP array studies generate multiple types of data for each SNP site, some with more than 100,000 SNPs represented on each array. The identification of different classes of anomalies within SNP data has been challenging.

Alternate JournalBMC Bioinformatics