Integrating GWAS and machine learning for disease risk prediction in the Taiwanese Hakka population

These findings demonstrate that integrating GWAS with machine-learning-based feature selection enables the construction of robust, population-specific disease risk models. Given the small sample size of the discovery cohort (n = 96), all predictive results should be interpreted as exploratory. We employed stringent cross-validation and 1,000× bootstrap resampling to reduce overfitting, and genomic control metrics (QQ plots and λGC values) were evaluated to ensure no major test statistic inflation. Independent large-scale validation will still be required. The approach effectively captures additive and interaction-driven genetic components and provides a scalable framework for applying precision medicine to underrepresented or isolated populations.

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Publication Details

Journal
Frontiers in Genetics
Published
2025-12-04
DOI
https://doi.org/10.3389/fgene.2025.1694084
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
0.00

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article

Integrating GWAS and machine learning for disease risk prediction in the Taiwanese Hakka population

Hsiao-Yen Kang, Jiayang Xiao, Chin‐Pyng Wu, Tien Hsu et al.
Frontiers in Genetics
Genetic Associations and Epidemiology
article

Integrating GWAS and machine learning for disease risk prediction in the Taiwanese Hakka population

Hsiao-Yen Kang, Jiayang Xiao, Chin‐Pyng Wu, Tien Hsu, Lin Su, Li-Ching Wu
article en

Abstract

These findings demonstrate that integrating GWAS with machine-learning-based feature selection enables the construction of robust, population-specific disease risk models. Given the small sample size of the discovery cohort (n = 96), all predictive results should be interpreted as exploratory. We employed stringent cross-validation and 1,000× bootstrap resampling to reduce overfitting, and genomic control metrics (QQ plots and λGC values) were evaluated to ensure no major test statistic inflation. Independent large-scale validation will still be required. The approach effectively captures additive and interaction-driven genetic components and provides a scalable framework for applying precision medicine to underrepresented or isolated populations.

Frontiers in GeneticsVol. 16
China Medical University (TW), National Central University (TW), Landseed Hospital (TW), Zhen Ding Technology (Taiwan) (TW)
Taiwan Biobank, National Central University
Openalex Percentile: Top 60%
Genetic Associations and Epidemiology
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Integrating GWAS and machine learning for disease risk prediction in the Taiwanese Hakka population — Hsiao-Yen Kang, Jiayang Xiao, et al. · Frontiers in Genetics (2025) | TGRS Research Map | TGRS