# The dual role of whole-genome duplication: biological mechanisms, functional consequences, and detection advances: The dual role of whole-genome duplication and its detection

**Authors:** Yawei Song, Jiajie Yang, Shuheng Wu, Wei Wu

PMC · DOI: 10.3724/abbs.2025175 · Acta Biochimica et Biophysica Sinica · 2025-09-30

## TL;DR

This paper reviews how whole-genome duplication (WGD) plays both normal and harmful roles in biology and how new tools help detect it.

## Contribution

The paper provides a comprehensive review of WGD's dual roles and recent detection advancements.

## Key findings

- WGD supports tissue regeneration but can also cause chromosomal instability in cancer.
- Recent advancements in sequencing and machine learning improve WGD detection.
- WGD is a critical regulator in development and disease.

## Abstract

Whole-genome duplication (WGD) represents an evolutionarily conserved process occurring in prokaryotes, eukaryotes, and somatic mammalian tissues. While developmentally programmed WGD supports normal tissue regeneration, unscheduled WGD drives chromosomal instability and oncogenic progression in cancer. Recent studies have clarified dual roles of WGD across physiological homeostasis and disease pathogenesis. Here, we review the prevalence of WGD, the molecular mechanisms driving its major causes and its biological consequences. In addition, we highlight recent advancements in WGD detection, including both conventional cytogenetic techniques and newly developed high-throughput sequencing approaches. The integration of multi-omics and machine learning further improves ploidy analysis, particularly in cancer research. Together, these insights establish WGD as a critical regulator of development, regeneration, and disease and underscore the importance of emerging computational and sequencing tools for its precise characterization.

## Linked entities

- **Diseases:** cancer (MONDO:0004992)
- **Species:** Mus musculus (taxon 10090)

## Full-text entities

- **Diseases:** cancer (MESH:D009369)

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12900705/full.md

## References

178 references — full list in the complete paper: https://tomesphere.com/paper/PMC12900705/full.md

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Source: https://tomesphere.com/paper/PMC12900705