PeakCNV: A multi-feature ranking algorithm-based tool for genome-wide copy number variation-association study.

ABSTRACT: Copy Number Variation (CNV) refers to a type of structural genomic alteration in which a segment of chromosome is duplicated or deleted. To date, many CNVs have been identified as causative genetic elements for several diseases and phenotypes. However, performing a CNV-based genome-wide association study is challenging due to inconsistency in length and occurrence of CNVs across different individuals under investigation. One of the most efficient strategies to address this issue is building CNV regions (genomic regions in which CNVs are overlapping - CNVRs). However, this approach is susceptible to a high false positive rate due to overlapping and co-occurring of confounding CNVRs with true positive CNVRs. Here, we develop PeakCNV that differentiates false-positive CNVRs from true positive

SUBMITTER: Labani M 

PROVIDER: S-EPMC9478359 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature