Statistical detection of genome differences based on CNV segments

Abstract

Population analysis using copy number variation (CNV) is far more complex than analysis using SNPs because of the diverse copy number and inconsistent boundaries of CNVs in different individuals that causes changes in frequency. Multiple studies have reported CNV regions associated with diseases or body traits based on a CNV segmentation strategy that condenses calls from multiple different sources into a genotype state. Here, we provide a guideline of how to generate CNV segments from known CNV results, and how to detect genome differences based on CNV segments.