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Integrating genomic correlation structure improves copy number variations detection.

Bioinformatics (Oxford, England) - 20 Apr 2021

Luo Xizhi, Qin Fei, Cai Guoshuai, Xiao Feifei

Abstract excerpt

MOTIVATION: Copy number variation plays important roles in human complex diseases. The detection of copy number variants (CNVs) is identifying mean shift in genetic intensities to locate chromosomal breakpoints, the step of which is referred to as chromosomal segmentation. Many segmentation algorithms have been developed with a strong assumption of independent observations in the genetic loci, and they assume...

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PMID: 32805016
DOI: 10.1093/bioinformatics/btaa737

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