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

@article{Shi2012AnIS,
  title={An integrative segmentation method for detecting germline copy number variations in SNP arrays.},
  author={Jianxin Shi and Peng Li},
  journal={Genetic epidemiology},
  year={2012},
  volume={36 4},
  pages={373-83}
}
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 studies, SegCNV had modestly better power to detect deletions and substantially better… CONTINUE READING
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