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Article

dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations.

BMC genomics - 20 Mar 2023

Lv Kangqi, Chen Dayang, Xiong Dan, Tang Huamei, Ou Tong, Kan Lijuan, Zhang Xiuming

Abstract excerpt

BACKGROUND: Copy number variation (CNV) is a type of structural variation, which is a gain or loss event with abnormal changes in copy number. Methods to predict the pathogenicity of CNVs are required to realize the relationship between these variants and clinical phenotypes. ClassifyCNV, X-CNV, StrVCTVRE, etc. have been trained to predict the pathogenicity of CNVs, but few studies have been reported based on the...

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Identifiers

PMID: 36941551
DOI: 10.1186/s12864-023-09225-4
PMCID: PMC10029177

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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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