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Functional genomic dissection and prediction of body size traits in pigs.

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Paper

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The authors' code

R · 37 lines · 1017 B · no license

  1. #' CumuPos: Determine the cumulative positions of scan.gwaa.object for plotting.
  2. #' @param scan.gwaa.object GenABEL scan.gwaa.object object containing GWAS results.
  3. #' @import GenABEL
  4. #' @export
  5. #'
  6. CumuPos<-function(scan.gwaa.object) {
  7. #~~ Extract results and calculate cumulative positions
  8. gwa_res <- results(scan.gwaa.object)
  9. gwa_res$Chromosome <- as.character(gwa_res$Chromosome)
  10. if("X" %in% gwa_res$Chromosome){
  11. chrvec <- unique(gwa_res$Chromosome)
  12. if(length(chrvec > 1)){
  13. chrvec <- as.numeric(chrvec[-which(chrvec == "X")])
  14. gwa_res$Chromosome[which(gwa_res$Chromosome == "X")] <- max(chrvec) + 1
  15. }
  16. }
  17. gwa_res$Chromosome <- as.numeric(gwa_res$Chromosome)
  18. gwa_res <- gwa_res[with(gwa_res, order(Chromosome,Position)), ]
  19. gwa_res$Diff <- c(0,diff(gwa_res$Position))
  20. gwa_res$Diff[gwa_res$Diff < 0] <- 1
  21. gwa_res$Cumu <- cumsum(gwa_res$Diff)
  22. gwa_res$Cumu2 <- gwa_res$Cumu + (25000000 * gwa_res$Chromosome)
  23. #~~ Plot the uncorrected p-values
  24. return(gwa_res)
  25. }

CumuPos.R at commit b4c09a3, no license · at the source

Overview

Authors: Naibiao Yu1, Dengshuai Cui1, Lei Xie1, Xi Tang1, Sanya Xiong1, Yang Zhang1, Ruiqiu He1, Longyun Li1, Shijun Xiao1, Yuanmei Guo1
ORCID iDs: Yuanmei Guo
  1. National Key Laboratory for Swine Genetic Improvement and Germplasm Innovation, Ministry of Science and Technology of China, Jiangxi Agricultural University,Nanchang, 330045 China
Institutions: Jiangxi Agricultural University (China)
Journal: Genetics, selection, evolution : GSE, volume 58, issue 1, article 55
Dates: received 11 November 2025; accepted 28 July 2026; published online 16 August 2026
Type: Research article · Language: English
License: CC BY
Identifiers: DOI 10.1186/s12711-026-01078-1 · PMID 42638083 · PMCID PMC13501698 · OpenAlex W7203574866
Open access: gold, a free copy (OpenAlex)
Status: code verified
Categories: genetics / omics (modality), other (organism), cellular / molecular (subfield)
Methods: Statistics, Machine learning, Connectivity
MeSH: Body Size*, Genome-Wide Association Study*, Quantitative Trait Loci*, Sus scrofa*, Animals, Body Mass Index, Body Weight, Chromosome Mapping, Genomics, Linkage Disequilibrium, Phenotype, Polymorphism, Single Nucleotide, Swine (* major topic)
Topic: Genetic Mapping and Diversity in Plants and Animals (Genetics, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: National Natural Science Foundation of China (National Science Foundation of China) (32560148, 31972542); Department of Agriculture and Rural Affairs of Jiangxi Province (2022JXCQZY01)
Citations: not cited yet (Europe PMC); 91 references in the paper

Abstract

Background: Body Size traits, particularly body weight (BW) and body mass index (BMI) at slaughter age, determine the meat yield and productivity of pigs. These phenotypes are shaped by numerous small-effect polygenes and regulated mostly by non-coding variants. Although genome-wide association studies (GWAS) have identified several loci and candidate functional variants, the regulatory mechanisms and causative genes of most traits remain uncharacterized, which limits the effectiveness of genomic prediction (GP). The purpose of this study was to bridge the gap between association studies and GP by integrating regulatory genomics into the GP framework to enhance prediction accuracy for body size traits.

Results: Using imputation-based GWAS in 1226 Shanxia Long Black pigs, multiple genome-wide significant loci were identified to be associated with BW and BMI. Linkage disequilibrium (LD) analysis, SuSiE fine-mapping, and regulatory modeling with Basenji deep-learning predictions refined these associations to 10 quantitative trait loci (QTLs) with 45 high-confidence candidate functional variants. Integration of chromatin-state annotations and high-throughput chromosome conformation capture (Hi-C) data revealed receptor tissue regulatory architectures; BW-associated variants on Sus scrofa chromosome 2 (SSC2) were enriched for brain regulatory regions, whereas BMI-associated loci showed enhancer activity across adipose, brain, and liver tissues. Multi-omics analyses converged on ZER1, KLHL29, and HAO1 as high-confidence candidate genes, while OR2T27 was a putative candidate on SSC2. In Basenji prediction, several specific candidate variants were identified as a liver enhancer. Incorporating these top-prioritized functional variants into genomic prediction models, GP yielded up to 21% gains in accuracy.

Conclusions: This study dissects the multi-tissue regulatory architecture, identifying functional variants, effector tissues, and target genes underlying porcine BW and BMI. By leveraging these biologically prioritized loci, we established a functionally informed GP framework that enhances prediction accuracy and biological interpretability simultaneously and also offered a scalable strategy for genetic improvement of complex traits in livestock.

Supplementary Information: The online version contains supplementary material available at 10.1186/s12711-026-01078-1.

Reproduced under the paper's license (CC BY), from the paper cited above.

Repository

Its files are read in the Code ↔ Paper reader above.

susjoh/wildsim

License: none: the authors keep all their rights
State: the link answers, verified on 27 September 2026
Evidence: files inventoried
Commit: b4c09a3c2d5c554393cbd4eda31f38b9f32b8a06, 17 January 2018
Languages: R (19), Shell (4)
Size: 61 files, 23 scripts
Software Heritage: archived
Found in: the text, “Simulation population”
Holds: environment (DESCRIPTION), documentation
Not found: README, license file, CITATION.cff, tests, continuous integration
Tools: ggplot2 (4 files), reshape2 (1 file)
Availability: 1 check, the latest on 27 September 2026: the link answers
  • 27 September 2026: the link answers
23 files

Tracing map

Proposed by the machine: these links were found in the paper and verified at the source, without human review. The map will receive a Zenodo DOI once one of the paper's authors has validated it with their ORCID.

What the map holds:

  • 1 repository of the authors' code, each at its verified commit, with its license and how the link was found in the paper;
  • 23 scripts, each with its path and the digest of its content;
  • no match between paragraphs and code yet;
  • neither the text of the paper nor the code itself.

Its JSON (tracing-map.json) is deposited on Zenodo with its DOI once the map is validated.

Data

Datasets cited

Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

Reproduced under the paper's license (CC BY), from the paper cited above.

Versions

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Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 10 authors, 13 MeSH terms, 2 funders, 90 references.

Cite

This paper

Yu, N., Cui, D., Xie, L., Tang, X., Xiong, S., Zhang, Y., He, R., Li, L., Xiao, S., & Guo, Y. (2026). Functional genomic dissection and prediction of body size traits in pigs. Genetics, selection, evolution : GSE, 58(1), 55. https://doi.org/10.1186/s12711-026-01078-1

BibTeX

@article{yu2026functional,
author = {Yu, Naibiao and Cui, Dengshuai and Xie, Lei and Tang, Xi and Xiong, Sanya and Zhang, Yang and He, Ruiqiu and Li, Longyun and Xiao, Shijun and Guo, Yuanmei},
title = {{Functional genomic dissection and prediction of body size traits in pigs}},
journal = {Genetics, selection, evolution : GSE},
year = {2026},
month = aug,
volume = {58},
number = {1},
pages = {55},
publisher = {BMC},
issn = {0999-193X},
doi = {10.1186/s12711-026-01078-1},
url = {https://doi.org/10.1186/s12711-026-01078-1},
pmid = {42638083},
pmcid = {PMC13501698}
}

RIS

TY - JOUR
AU - Yu, Naibiao
AU - Cui, Dengshuai
AU - Xie, Lei
AU - Tang, Xi
AU - Xiong, Sanya
AU - Zhang, Yang
AU - He, Ruiqiu
AU - Li, Longyun
AU - Xiao, Shijun
AU - Guo, Yuanmei
TI - Functional genomic dissection and prediction of body size traits in pigs
T2 - Genetics, selection, evolution : GSE
J2 - Genet Sel Evol
PY - 2026
DA - 2026/08/16
VL - 58
IS - 1
SP - 55
SN - 0999-193X
PB - BMC
DO - 10.1186/s12711-026-01078-1
UR - https://doi.org/10.1186/s12711-026-01078-1
LA - en
ER -

CSL-JSON

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"container-title": "Genetics, selection, evolution : GSE",
"author": [
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