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ACNE: a summarization method to estimate allele-specific copy numbers for Affymetrix SNP arrays
Author(s) -
María Ortiz-Estévez,
Henrik Bengtsson,
Ángel Rubio
Publication year - 2010
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btq300
Subject(s) - automatic summarization , snp , genetics , copy number variation , computational biology , biology , allele , single nucleotide polymorphism , computer science , genome , genotype , information retrieval , gene
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.

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