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 framework X-CNV ( www.unimd.org/XCNV ), to predict the pathogenicity of CNVs by integrating more than 30 informative features such as allele frequency (AF), CNV length, CNV type, and some deleterious scores. Notably, over 14 million CNVs across various ethnic groups, covering nearly 93% of the human genome, were unified to calculate the AF. X-CNV, which yielded area under curve (AUC) values of 0.96 and 0.94 in training and validation sets, was demonstrated to outperform other available tools

SUBMITTER: Zhang L 

PROVIDER: S-EPMC8375180 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature