PopSV is an open-source R package designed for the detection of Copy Number Variations (CNVs) from high-throughput sequencing data. By leveraging a population of samples as a reference, PopSV identifies abnormal read-depth signals indicative of CNVs, enhancing robustness and sensitivity, especially in regions of low mappability.

Key Features:

• Population-Based Reference: Utilizes data from multiple samples to establish a reference, improving the detection of CNVs by accounting for technical and biological variability.
• Whole Genome Interrogation: Capable of analyzing the entire genome, including challenging regions with low mappability, without the need for masking or smoothing.
• Robust Detection in Repetitive Regions: Demonstrates high sensitivity in identifying CNVs within repeat-rich areas, such as segmental duplications and regions proximal to centromeres and telomeres.

Availability: PopSV is free and open-source, released under the MIT License. Researchers can access and contribute to its development via the GitHub repository.

Technical Documentation and Access:

• GitHub Repository: https://github.com/jmonlong/PopSV
• Documentation and Tutorials: https://jmonlong.github.io/PopSV/

Note: All resources and documentation are provided in English.

By employing a population-based approach, PopSV enhances the accuracy of CNV detection across diverse genomic regions, making it a valuable tool for researchers in genomics and related fields.