GWAS meta-analysis using a graph-based pan-genome enhanced gene mining efficiency for agronomic traits in rice

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Abstract

Genome-wide association studies (GWASs) encounter limitations from population structure and sample size, restricting their efficacy. Though meta-analysis mitigates these issues, its application in rice research remains limited. Here, we report a large-scale meta-analysis of six independent GWAS experiments in rice to mine genes for key agronomic traits. By integrating a rice pan-genome graph to identify structural variants, we obtained 6,604,898 SNP and 42,879 PAV variants for the six panels (7765 accessions). Meta-analysis significantly improved quantitative trait loci (QTLs) detection and hidden heritability by up to 43 and 37.88%, respectively. Among 156 QTLs identified for six agronomic traits, 116 were exclusively detected through meta-analysis, highlighting its superior resolution. Two novel QTLs governing grain width and length were functionally validated through CRISPR/Cas9, confirming their candidate genes. Our findings underscore the utility and potential advantages of this pan-genome-based meta-GWAS approach, providing a scalable model for efficiently gene mining from diverse rice germplasms.

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Yang, L., He, W., Zhu, Y., Lv, Y., Li, Y., Zhang, Q., … Shang, L. (2025). GWAS meta-analysis using a graph-based pan-genome enhanced gene mining efficiency for agronomic traits in rice. Nature Communications , 16(1). https://doi.org/10.1038/s41467-025-58081-1

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