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Updated: Jun 14, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
HAP-SAMPLE2: data-based resampling for association studies with admixture
George Sun1, Bryan W Ting1, Fred A Wright1,2,3
1Bioinformatics Research Center, North Carolina State University, Raleigh, NC 27695, United States.
Motivation:
HAP-SAMPLE2 extends the functionality of the original HAP-SAMPLE tool for simulating genotype-phenotype data, now with features to handle population admixture and rare variant analysis. It allows users to define parameters such as disease prevalence and allele effect sizes for both common and rare variant simulations.
Results:
HAP-SAMPLE2 provides an efficient means for simulating complex datasets, suitable for large-scale projects like the 1000 Genomes Project. Its capabilities for population admixture allow users to create admixed populations or preserve substructures while introducing novel variation through artificial recombination. Additionally, the tool supports burden testing for rare variants using fixed and Madsen-Browning weighting schemes.
Availability And Implementation:
The software, along with a detailed vignette, is available on GitHub: https://github.com/M3dical/HAPSAMPLE2.
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