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wuHMM: a robust algorithm to detect DNA copy number variation using long oligonucleotide microarray data.

Abstract：

:Copy number variants (CNVs) are currently defined as genomic sequences that are polymorphic in copy number and range in length from 1000 to several million base pairs. Among current array-based CNV detection platforms, long-oligonucleotide arrays promise the highest resolution. However, the performance of currently available analytical tools suffers when applied to these data because of the lower signal:noise ratio inherent in oligonucleotide-based hybridization assays. We have developed wuHMM, an algorithm for mapping CNVs from array comparative genomic hybridization (aCGH) platforms comprised of 385 000 to more than 3 million probes. wuHMM is unique in that it can utilize sequence divergence information to reduce the false positive rate (FPR). We apply wuHMM to 385K-aCGH, 2.1M-aCGH and 3.1M-aCGH experiments comparing the 129X1/SvJ and C57BL/6J inbred mouse genomes. We assess wuHMM's performance on the 385K platform by comparison to the higher resolution platforms and we independently validate 10 CNVs. The method requires no training data and is robust with respect to changes in algorithm parameters. At a FPR of <10%, the algorithm can detect CNVs with five probes on the 385K platform and three on the 2.1M and 3.1M platforms, resulting in effective resolutions of 24 kb, 2-5 kb and 1 kb, respectively.

journal_name

Nucleic Acids Res

journal_title

Nucleic acids research

authors

Cahan P,Godfrey LE,Eis PS,Richmond TA,Selzer RR,Brent M,McLeod HL,Ley TJ,Graubert TA

doi

10.1093/nar/gkn110

subject

Has Abstract

pub_date

2008-04-01 00:00:00

pages

e41

issue

7

eissn

0305-1048

issn

1362-4962

pii

gkn110

journal_volume

36

pub_type

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