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

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

Abstract 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 fr...

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Bibliographic Details
Main Authors: Li Zhang, Jingru Shi, Jian Ouyang, Riquan Zhang, Yiran Tao, Dongsheng Yuan, Chengkai Lv, Ruiyuan Wang, Baitang Ning, Ruth Roberts, Weida Tong, Zhichao Liu, Tieliu Shi
Format: Article
Language:English
Published: BMC 2021-08-01
Series:Genome Medicine
Subjects:
XGBoost
Copy number variation
Pathogenicity
Next-generation sequencing
Machine learning
Online Access:https://doi.org/10.1186/s13073-021-00945-4

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