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

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

doi:10.1093/nar/gkm076

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

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 val…