Copy number normalization distinguishes differential signals driven by copy number differences in ATAC-seq and ChIP-seq

A common objective across ATAC-seq and ChIP-seq analyses is to identify differential signals across contrasted conditions. However, in differential analyses, the impact of copy number variation is often overlooked. Here, we demonstrated copy number differences among samples could drive, if not dominate, differential signals. To address this, we propose a pipeline featuring copy number normalization. By comparing the averaged signal per gene copy, it effectively segregates differential signals driven by copy number from other factors. Further applying it to Down syndrome unveiled distinct dosage-dependent and -independent changes on chromosome 21. Thus, we recommend copy number normalization as a general approach.

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Publication Details

Journal
BMC Genomics
Published
2025-03-28
DOI
https://doi.org/10.1186/s12864-025-11442-y
Citations
2
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
3.63

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article

Copy number normalization distinguishes differential signals driven by copy number differences in ATAC-seq and ChIP-seq

Volker Soltys, Yingguang Frank Chan, Dingwen Su, Moritz Peters
2 citations
BMC Genomics
Genomic variations and chromosomal abnormalities
3.63
article

Copy number normalization distinguishes differential signals driven by copy number differences in ATAC-seq and ChIP-seq

Volker Soltys, Yingguang Frank Chan, Dingwen Su, Moritz Peters
article en
2 citations

Abstract

A common objective across ATAC-seq and ChIP-seq analyses is to identify differential signals across contrasted conditions. However, in differential analyses, the impact of copy number variation is often overlooked. Here, we demonstrated copy number differences among samples could drive, if not dominate, differential signals. To address this, we propose a pipeline featuring copy number normalization. By comparing the averaged signal per gene copy, it effectively segregates differential signals driven by copy number from other factors. Further applying it to Down syndrome unveiled distinct dosage-dependent and -independent changes on chromosome 21. Thus, we recommend copy number normalization as a general approach.

BMC GenomicsVol. 26(1)
Max Planck Society (DE), Friedrich Miescher Laboratory (DE)
International Max Planck Research School for Environmental, Cellular and Molecular Microbiology, Max-Planck-Gesellschaft
Openalex Percentile: Top 9%
Genomic variations and chromosomal abnormalities
3.63
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