Admix-kit：用于混合人群遗传分析的集成工具包和管道。
Admix-kit: an integrated toolkit and pipeline for genetic analyses of admixed populations.
机构信息
Bioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA, 90095, United States.
Department of Biostatistics, University of Washington, Seattle, WA, 98195, United States.
出版信息
Bioinformatics. 2024 Mar 29;40(4). doi: 10.1093/bioinformatics/btae148.
SUMMARY
Admixed populations, with their unique and diverse genetic backgrounds, are often underrepresented in genetic studies. This oversight not only limits our understanding but also exacerbates existing health disparities. One major barrier has been the lack of efficient tools tailored for the special challenges of genetic studies of admixed populations. Here, we present admix-kit, an integrated toolkit and pipeline for genetic analyses of admixed populations. Admix-kit implements a suite of methods to facilitate genotype and phenotype simulation, association testing, genetic architecture inference, and polygenic scoring in admixed populations.
AVAILABILITY AND IMPLEMENTATION
Admix-kit package is open-source and available at https://github.com/KangchengHou/admix-kit. Additionally, users can use the pipeline designed for admixed genotype simulation available at https://github.com/UW-GAC/admix-kit_workflow.
摘要
混合人群具有独特而多样化的遗传背景，但在遗传研究中往往代表性不足。这种忽视不仅限制了我们的理解，还加剧了现有的健康差距。一个主要障碍是缺乏针对混合人群遗传研究特殊挑战的有效工具。在这里，我们提出了 admix-kit，这是一个用于混合人群遗传分析的集成工具包和管道。admix-kit 实现了一系列方法，以促进混合人群中的基因型和表型模拟、关联测试、遗传结构推断和多基因评分。
可用性和实现
admix-kit 包是开源的，可在 https://github.com/KangchengHou/admix-kit 上获得。此外，用户可以使用在 https://github.com/UW-GAC/admix-kit_workflow 上设计的用于混合基因型模拟的管道。
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