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Article

X-CNV: genome-wide prediction of the pathogenicity of copy number variations.

Genome medicine - 18 Aug 2021

Zhang Li, Shi Jingru, Ouyang Jian, Zhang Riquan, Tao Yiran, Yuan Dongsheng, Lv Chengkai, Wang Ruiyuan, Ning Baitang, Roberts Ruth, Tong Weida, Liu Zhichao, Shi Tieliu

Abstract excerpt

BACKGROUND: Gene copy number variations (CNVs) contribute to genetic diversity and disease prevalence across populations. Substantial efforts have been made to decipher the relationship between CNVs and pathogenesis but with limited success. RESULTS: We have developed a novel computational framework X-CNV ( www.unimd.org/XCNV ), to predict the pathogenicity of CNVs by integrating more than 30 informative features...

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Identifiers

PMID: 34407882
DOI: 10.1186/s13073-021-00945-4
PMCID: PMC8375180

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