Evidence map›Paper›PMID 40123798›Full record

ArticleComputational and structural biotechnology journal2025

Benchmarking strategies for CNV calling from whole genome bisulfite data in humans.

Shanghui Zhao, Dantong Xu, Jiali Cai, Qingpeng Shen, Mingran He, Xiangchun Pan, Yahui Gao, Jiaqi Li, Xiaolong Yuan

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Computational and structural biotechnology journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Shanghui ZhaoState Key Laboratory of Swine and Poultry Breeding Industry, National Engineering Research Center for Breeding Swine Industry, Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong 510642, China.
Dantong XuState Key Laboratory of Swine and Poultry Breeding Industry, National Engineering Research Center for Breeding Swine Industry, Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong 510642, China.
Jiali CaiState Key Laboratory of Swine and Poultry Breeding Industry, National Engineering Research Center for Breeding Swine Industry, Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong 510642, China.
Qingpeng ShenState Key Laboratory of Swine and Poultry Breeding Industry, National Engineering Research Center for Breeding Swine Industry, Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong 510642, China.
Mingran HeState Key Laboratory of Swine and Poultry Breeding Industry, National Engineering Research Center for Breeding Swine Industry, Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong 510642, China.
Xiangchun PanState Key Laboratory of Swine and Poultry Breeding Industry, National Engineering Research Center for Breeding Swine Industry, Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong 510642, China.
Yahui GaoState Key Laboratory of Swine and Poultry Breeding Industry, National Engineering Research Center for Breeding Swine Industry, Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong 510642, China.
Jiaqi LiState Key Laboratory of Swine and Poultry Breeding Industry, National Engineering Research Center for Breeding Swine Industry, Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong 510642, China.
Xiaolong YuanState Key Laboratory of Swine and Poultry Breeding Industry, National Engineering Research Center for Breeding Swine Industry, Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong 510642, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

It's important to dissect the relationship between copy number variations (CNVs) and DNA methylation, because both greatly change the dosages of genes and are responsible for diverse human cancers. Although whole genome bisulfite sequencing (WGBS) informs CNVs and DNA methylation, no study has provided a systematic benchmark for detecting CNVs from WGBS data. Herein, based on simulated and real WGBS datasets of 84.62 billion reads, we undertook 714 CNV detections to comprehensively benchmark the performance of 35 strategies, 5 alignment algorithms (bismarkbt2, bsbolt, bsmap, bwameth, and walt) wrapping with 7 CNV detection applications (BreakDancer, cn.mops, CNVkit, CNVnator, DELLY, GASV and Pindel). The results highlighted a subset of strategies that accurately called CNVs depending on numbers, lengths, precision, recall, and F1 scores of CNV detections. We found that bwameth-DELLY and bwameth-BreakDancer were the best strategies for calling deletions, and walt-CNVnator and bismarkbt2-CNVnator were the best strategies for calling duplications. These works provided investigators with useful information to accurately explore CNVs from WGBS data in humans.

Indexed as

Copy number variationsDNA methylationHuman genomeWhole genome bisulfite sequencing

Identifiers

PMID40123798
PMCPMC11929052

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.