George Sun, Bryan W Ting, Fred A Wright, Yi-Hui Zhou
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引用次数: 0
Abstract
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.
Application: 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: The software, along with a detailed vignette, is available on GitHub: https://github.com/M3dical/HAPSAMPLE2.
Supplementary information: A supplemental material file and software vignette are available at Bioinformatics online.
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