Scaling genetic discovery through automated post-GWAS interpretation

Genome-wide association studies (GWAS) have made association discovery systematic and cumulative, yet evidence for interpreting associated loci remains selective, heterogeneous and difficult to accumulate across studies. Here we present Post-GWAS Intelligence (PGI), which couples context-dependent post-GWAS analysis to a common representation of analysis-derived evidence. Its multi-agent engine, VariantAgent, executes workflows, records tool-derived results in standardized variant-centred units and generates trait-level interpretations linked to their analytical basis and evidential status. Complementary benchmarks showed that VariantAgent outperformed tested general-purpose and biomedical agents, with its largest advantage when success required both a correct answer and a valid analytical trace. Across 34 published GWAS, VariantAgent achieved a mean per-study recovery of 82.1% for directly comparable findings. The largest gains lay downstream of association mapping, where uniform analysis extended published interpretations and identified regulatory relationships at established risk loci not previously reported in the source studies. Analysis of 1,041 GWAS yielded 530,949 evidence units and corresponding reports, which PGI organized into a cross-trait catalogue. Catalogue interrogation resolved an apparent cross-trait overlap into distinct signals and trait-specific biological hypotheses. This work demonstrates how PGI can extend genetic discovery beyond association mapping by enabling biological evidence to accumulate across studies.

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Publication Details

Journal
bioRxiv (Cold Spring Harbor Laboratory)
Published
2026-10-27
DOI
https://doi.org/10.64898/2026.10.23.761278
Primary Topic
Genetic Associations and Epidemiology
Type
preprint

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preprint

Scaling genetic discovery through automated post-GWAS interpretation

Tingting Hu, Xing Wan, Yingnan Han, Xuanzhao Li et al.
1 links
bioRxiv (Cold Spring Harbor Laboratory)
Genetic Associations and Epidemiology
preprint

Scaling genetic discovery through automated post-GWAS interpretation

Tingting Hu, Xing Wan, Yingnan Han, Xuanzhao Li, Erping Long, Qinhao Zhang, Lei Bai, Lilong Wang, Fulong Yu, Zhenyu Tang, Peng Ye, Xiaosong Wang, Jingxuan Wang, Yan Zhang, Shuang Gu, Ye Yang, Xiwen Zhang, Libo Qiao, Jiaheng He, Faming Chen
preprint en

Abstract

Genome-wide association studies (GWAS) have made association discovery systematic and cumulative, yet evidence for interpreting associated loci remains selective, heterogeneous and difficult to accumulate across studies. Here we present Post-GWAS Intelligence (PGI), which couples context-dependent post-GWAS analysis to a common representation of analysis-derived evidence. Its multi-agent engine, VariantAgent, executes workflows, records tool-derived results in standardized variant-centred units and generates trait-level interpretations linked to their analytical basis and evidential status. Complementary benchmarks showed that VariantAgent outperformed tested general-purpose and biomedical agents, with its largest advantage when success required both a correct answer and a valid analytical trace. Across 34 published GWAS, VariantAgent achieved a mean per-study recovery of 82.1% for directly comparable findings. The largest gains lay downstream of association mapping, where uniform analysis extended published interpretations and identified regulatory relationships at established risk loci not previously reported in the source studies. Analysis of 1,041 GWAS yielded 530,949 evidence units and corresponding reports, which PGI organized into a cross-trait catalogue. Catalogue interrogation resolved an apparent cross-trait overlap into distinct signals and trait-specific biological hypotheses. This work demonstrates how PGI can extend genetic discovery beyond association mapping by enabling biological evidence to accumulate across studies.

bioRxiv (Cold Spring Harbor Laboratory)
Chinese Academy of Medical Sciences & Peking Union Medical College (CN), Guangdong Academy of Medical Sciences (CN), Guangdong Provincial People's Hospital (CN), Shanghai Artificial Intelligence Laboratory (CN), Guangzhou Laboratory (CN)
National Natural Science Foundation of China, Guangdong Provincial People's Hospital, Basic and Applied Basic Research Foundation of Guangdong Province
Good health and well-being
Genetic Associations and Epidemiology
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