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Article

Shall genomic correlation structure be considered in copy number variants detection?

Briefings in bioinformatics - 5 Nov 2021

Qin Fei, Luo Xizhi, Cai Guoshuai, Xiao Feifei

Abstract excerpt

Copy number variation has been identified as a major source of genomic variation associated with disease susceptibility. With the advent of whole-exome sequencing (WES) technology, massive WES data have been generated, allowing for the identification of copy number variants (CNVs) in the protein-coding regions with direct functional interpretation. We have previously shown evidence of the genomic correlation...

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Identifiers

PMID: 34114005
DOI: 10.1093/bib/bbab215
PMCID: PMC8768456

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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