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Article

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

Nucleic acids research - 1 Jan 2007

Colella Stefano, Yau Christopher, Taylor Jennifer M, Mirza Ghazala, Butler Helen, Clouston Penny, Bassett Anne S, Seller Anneke, Holmes Christopher C, Ragoussis Jiannis

Abstract excerpt

Array-based technologies have been used to detect chromosomal copy number changes (aneuploidies) in the human genome. Recent studies identified numerous copy number variants (CNV) and some are common polymorphisms that may contribute to disease susceptibility. We developed, and experimentally validated, a novel computational framework (QuantiSNP) for detecting regions of copy number variation from BeadArray SNP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17341461
DOI: 10.1093/nar/gkm076
PMCID: PMC1874617

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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