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Article

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

BMC bioinformatics - 18 Jan 2006

Ting Jason C, Ye Ying, Thomas George H, Ruczinski Ingo, Pevsner Jonathan

Abstract excerpt

BACKGROUND: 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...

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Identifiers

PMID: 16420694
DOI: 10.1186/1471-2105-7-25
PMCID: PMC1382255

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