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Article

Exploiting sequence similarity to validate the sensitivity of SNP arrays in detecting fine-scaled copy number variations.

Bioinformatics (Oxford, England) - 15 Apr 2010

Wong Gerard, Leckie Christopher, Gorringe Kylie L, Haviv Izhak, Campbell Ian G, Kowalczyk Adam

Abstract excerpt

MOTIVATION: High-density single nucleotide polymorphism (SNP) genotyping arrays are efficient and cost effective platforms for the detection of copy number variation (CNV). To ensure accuracy in probe synthesis and to minimize production costs, short oligonucleotide probe sequences are used. The...

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PMID: 20189937
DOI: 10.1093/bioinformatics/btq088

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20189937-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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