Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data

Abstract

Genomic deletions and duplications are important in the pathogenesis of diseases, such as cancer and mental retardation, and have recently been shown to occur frequently in unaffected individuals as polymorphisms. Affymetrix GeneChip whole genome sampling analysis (WGSA) combined with 100 K single nucleotide polymorphism (SNP) genotyping arrays is one of… (More)
DOI: 10.1186/1471-2105-8-368

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