ACNE: a summarization method to estimate allele-specific copy numbers for Affymetrix SNP arrays.
BACKGROUND
Current algorithms for estimating DNA copy numbers (CNs) borrow concepts from gene expression analysis methods. However, single nucleotide polymorphism (SNP) arrays have special characteristics that, if taken into account, can improve the overall performance. For example, cross hybridization between alleles occurs in SNP probe pairs. In addition, most of the current CN methods are focused on total CNs, while it has been shown that allele-specific CNs are of paramount importance for some studies. Therefore, we have developed a summarization method that estimates high-quality allele-specific CNs.


RESULTS
The proposed method estimates the allele-specific DNA CNs for all Affymetrix SNP arrays dealing directly with the cross hybridization between probes within SNP probesets. This algorithm outperforms (or at least it performs as well as) other state-of-the-art algorithms for computing DNA CNs. It better discerns an aberration from a normal state and it also gives more precise allele-specific CNs.


BACKGROUND
The method is available in the open-source R package ACNE, which also includes an add on to the aroma.affymetrix framework (http://www.aroma-project.org/).
Ortiz-Estevez
Maria
M
Group of Bioinformatics, CEIT and TECNUN, University of Navarra, San Sebastian, Spain.
Bengtsson
Henrik
H
Rubio
Angel
A
D000465:Algorithms; D000483:Alleles; D019295:Computational Biology / Q000295:instrumentation / Q000379:methods*; D018628:Gene Dosage; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide