Skip to content
DraconiticResearch
Search Sources API
203,234 studies31 sourcesUpdated 11 min ago
PreprintCC BYbioRxiv

Bundling Alleles Within Haplotype Blocks Improves QTL Detection Under Allelic Heterogeneity

  • S. Oome1
  • M. Ghanbari
  1. 1HZPC Research B.V.
Read full textPDFDOICite

Abstract

Allelic heterogeneity is a term from genetics which means that alleles that differ in primary sequence can have a similar phenotypic outcome. In other words, they are functional equivalents, and they naturally appear through convergent evolution under selection. Current GWAS has trouble detecting these instances, as allelic heterogeneity leads to signal dilution in these analyses, often leading to a LOD score that stays below detection thresholds. In this paper, we show a method that can overcome this problem by bundling haplotypes into Artificial Combined Markers. The created marker matrix can then easily be used in existing GWAS software.

Related

  1. Data Amount Heterogeneity Improves Performance in Federated Learning for Neuroimaging
    Paul Kurian, Tamoghna Chattopadhyay, Abhijith Shaji +3
    arXivPreprintCC BY 4.0Full textNeurosciencearXivPMC
  2. Capturing Spatial Heterogeneity Using UAV-Derived Multispectral Phenotypes and Random Regression Models Improves Genetic Evaluation in Alfalfa Breeding Trials
    D. Ghimire, R. Thapa, K. H. Kunze +9
    bioRxivPreprintCC BYFull textGenetics & genomicsbioRxiv
  3. NuSAP1 promotes spindle assembly in Trypanosoma brucei by bundling spindle microtubules
    Qing Zhou, Yasuhiro Kurasawa, Thiago Souza Onofre +3
    Communications BiologyPeer-reviewedCC BY-NC-ND 4.0Full textCell biologyPMC
  4. A Weighted Estimation Approach to Correct for Imperfect Mutation Detection Due to Intra-tumor Heterogeneity in Tumor Sequencing
    A. Mauguen, I. ostrovnaya
    bioRxivPreprintCC BYFull textBioinformatics & computational biologybioRxiv
  5. The Role of Actin-Filament Bundling Protein, Fimbrin Sac6, and Type-V Myosin Myo2, in the Motion of the SUN-Domain Protein, Mps3, During Yeast Meiosis.
    Shuangping Cheng, Tadasu Nozaki, Yurika Fujita +2
    Genes to cells : devoted to molecular & cellular mechanismsPeer-reviewedCC BYFull textCell biologyEurope PMCPMC

Cite

BibTeXRIS
BibTeX
@misc{oome2026bundling,
  title = {{Bundling Alleles Within Haplotype Blocks Improves QTL Detection Under Allelic Heterogeneity}},
  author = {S. Oome and M. Ghanbari},
  howpublished = {bioRxiv},
  year = {2026},
  month = sep,
  doi = {10.64898/2026.09.04.749340},
  url = {https://www.biorxiv.org/content/10.64898/2026.09.04.749340v1},
  note = {CC BY},
}
RIS
TY  - UNPB
TI  - Bundling Alleles Within Haplotype Blocks Improves QTL Detection Under Allelic Heterogeneity
AU  - S. Oome
AU  - M. Ghanbari
PY  - 2026
DA  - 2026/09/04
PB  - bioRxiv
DO  - 10.64898/2026.09.04.749340
UR  - https://www.biorxiv.org/content/10.64898/2026.09.04.749340v1
AB  - Allelic heterogeneity is a term from genetics which means that alleles that differ in primary sequence can have a similar phenotypic outcome. In other words, they are functional equivalents, and they naturally appear through convergent evolution under selection. Current GWAS has trouble detecting these instances, as allelic heterogeneity leads to signal dilution in these analyses, often leading to a LOD score that stays below detection thresholds. In this paper, we show a method that can overcome this problem by bundling haplotypes into Artificial Combined Markers. The created marker matrix can then easily be used in existing GWAS software.
ER  -