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Updated: Jun 17, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
A new gene-based association test for genome-wide association studies
Alfonso Buil1, Angel Martinez-Perez, Alexandre Perera-Lluna
1Unitat de Genomica de Malalties Complexes, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Barcelona, 08025, Spain. abuil@santpau.cat.
Abstract:
Genome-wide association studies are widely used today to discover genetic factors that modify the risk of complex diseases. Usually, these methods work in a SNP-by-SNP fashion. We present a gene-based test that can be applied in the context of genome-wide association studies. We compare both strategies, SNP-based and gene-based, in a sample of cases and controls for rheumatoid arthritis.We obtained different results using each strategy. The SNP-based test found the PTPN22 gene while the gene-based test found the PHF19-TRAF1-C5 region. That suggests that no single strategy performs better than another in all cases and that a certain underlying genetic architecture can be delineated more easily with one strategy rather than with another.
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