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An integrative segmentation method for detecting germline copy number variations in SNP arrays.

Genetic epidemiology - 1 May 2012

Shi Jianxin, Li Peng

Abstract excerpt

Germline copy number variations (CNVs) are a major source of genetic variation in humans. In large-scale studies of complex diseases, CNVs are usually detected from data generated by single nucleotide polymorphism (SNP) genotyping arrays. In this paper, we develop an integrative segmentation method, SegCNV, for detecting CNVs integrating both log R ratio (LRR) and B allele frequency (BAF). Based on simulation...

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PMID: 22539397
DOI: 10.1002/gepi.21631

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CBS

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