• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

PyPop:一个成熟的开源群体遗传学软件管道。

PyPop: a mature open-source software pipeline for population genomics.

机构信息

Amber Biology LLC, Cambridge, MA, United States.

Ronin Institute, Montclair, NJ, United States.

出版信息

Front Immunol. 2024 Apr 2;15:1378512. doi: 10.3389/fimmu.2024.1378512. eCollection 2024.

DOI:10.3389/fimmu.2024.1378512
PMID:38629078
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11019567/
Abstract

Python for Population Genomics (PyPop) is a software package that processes genotype and allele data and performs large-scale population genetic analyses on highly polymorphic multi-locus genotype data. In particular, PyPop tests data conformity to Hardy-Weinberg equilibrium expectations, performs Ewens-Watterson tests for selection, estimates haplotype frequencies, measures linkage disequilibrium, and tests significance. Standardized means of performing these tests is key for contemporary studies of evolutionary biology and population genetics, and these tests are central to genetic studies of disease association as well. Here, we present PyPop 1.0.0, a new major release of the package, which implements new features using the more robust infrastructure of GitHub, and is distributed via the industry-standard Python Package Index. New features include implementation of the asymmetric linkage disequilibrium measures and, of particular interest to the immunogenetics research communities, support for modern nomenclature, including colon-delimited allele names, and improvements to meta-analysis features for aggregating outputs for multiple populations. Code available at: https://zenodo.org/records/10080668 and https://github.com/alexlancaster/pypop.

摘要

Python 群体遗传学(PyPop)是一个软件包,用于处理基因型和等位基因数据,并对高度多态性的多位点基因型数据进行大规模群体遗传分析。特别是,PyPop 可以检验数据是否符合哈迪-温伯格平衡预期,进行选择的埃文斯-沃特森检验,估计单倍型频率,测量连锁不平衡,并检验显著性。执行这些检验的标准化方法是当代进化生物学和群体遗传学研究的关键,这些检验也是疾病关联遗传研究的核心。在此,我们发布了 PyPop 1.0.0,这是该软件包的一个重大新版本,它使用更强大的 GitHub 基础设施实现了新功能,并通过行业标准的 Python 包索引进行分发。新功能包括实现非对称连锁不平衡度量,以及特别受到免疫遗传学研究社区关注的,支持现代命名法,包括用冒号分隔的等位基因名称,并改进了元分析功能,用于聚合多个群体的输出。代码可在以下网址获取:https://zenodo.org/records/10080668 和 https://github.com/alexlancaster/pypop。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d75/11019567/46eb71a0ca43/fimmu-15-1378512-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d75/11019567/2a9faff98b60/fimmu-15-1378512-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d75/11019567/46eb71a0ca43/fimmu-15-1378512-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d75/11019567/2a9faff98b60/fimmu-15-1378512-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d75/11019567/46eb71a0ca43/fimmu-15-1378512-g002.jpg

相似文献

1
PyPop: a mature open-source software pipeline for population genomics.PyPop:一个成熟的开源群体遗传学软件管道。
Front Immunol. 2024 Apr 2;15:1378512. doi: 10.3389/fimmu.2024.1378512. eCollection 2024.
2
PyPop update--a software pipeline for large-scale multilocus population genomics.PyPop更新——一种用于大规模多位点群体基因组学的软件流程
Tissue Antigens. 2007 Apr;69 Suppl 1(0 1):192-7. doi: 10.1111/j.1399-0039.2006.00769.x.
3
PyPop: a software framework for population genomics: analyzing large-scale multi-locus genotype data.PyPop:一个用于群体基因组学的软件框架:分析大规模多位点基因型数据。
Pac Symp Biocomput. 2003:514-25.
4
Bridging ImmunoGenomic Data Analysis Workflow Gaps (BIGDAWG): An integrated case-control analysis pipeline.弥合免疫基因组数据分析工作流程差距(BIGDAWG):一种综合的病例对照分析流程。
Hum Immunol. 2016 Mar;77(3):283-287. doi: 10.1016/j.humimm.2015.12.006. Epub 2015 Dec 18.
5
mixIndependR: a R package for statistical independence testing of loci in database of multi-locus genotypes.mixIndependR:一个用于在多基因座基因型数据库中测试基因座统计独立性的 R 包。
BMC Bioinformatics. 2021 Jan 6;22(1):12. doi: 10.1186/s12859-020-03945-0.
6
14th International HLA and Immunogenetics Workshop: report of progress in methodology, data collection, and analyses.第14届国际人类白细胞抗原与免疫遗传学研讨会:方法学、数据收集及分析进展报告
Tissue Antigens. 2007 Apr;69 Suppl 1:185-7. doi: 10.1111/j.1399-0039.2006.00767.x.
7
Hapl-o-Mat: open-source software for HLA haplotype frequency estimation from ambiguous and heterogeneous data.单倍型矩阵(Hapl-o-Mat):用于从模糊和异质数据估计HLA单倍型频率的开源软件。
BMC Bioinformatics. 2017 May 30;18(1):284. doi: 10.1186/s12859-017-1692-y.
8
Primerdiffer: a python command-line module for large-scale primer design in haplotype genotyping.Primerdiffer:一个用于单体型基因分型中大规模引物设计的 Python 命令行模块。
Bioinformatics. 2023 Apr 3;39(4). doi: 10.1093/bioinformatics/btad188.
9
Determination of HLA-A, -B, -C, -DRB1 and -DQB1 allele and haplotype frequencies in heart failure patients.测定心力衰竭患者 HLA-A、-B、-C、-DRB1 和 -DQB1 等位基因和单倍型频率。
ESC Heart Fail. 2019 Apr;6(2):388-395. doi: 10.1002/ehf2.12406. Epub 2019 Jan 23.
10
Efficient population-scale variant analysis and prioritization with VAPr.利用 VAPr 进行高效的群体规模变异分析和优先级排序。
Bioinformatics. 2018 Aug 15;34(16):2843-2845. doi: 10.1093/bioinformatics/bty192.

引用本文的文献

1
Uncovering genetic diversity and admixture of British Africans with HLA alleles inferred from whole genome sequencing.通过全基因组测序推断英国非洲人的HLA等位基因,揭示其遗传多样性和混合情况。
Eur J Hum Genet. 2025 Jul 16. doi: 10.1038/s41431-025-01888-9.
2
High resolution class I HLA-A, -B, and -C diversity in Eastern and Southern African populations.东非和南非人群中I类高分辨率HLA - A、- B和- C的多样性。
Sci Rep. 2025 Jul 2;15(1):23667. doi: 10.1038/s41598-025-06704-4.
3
HLA diversity and signatures of selection in the Maniq, a nomadic hunter-gatherer population in Southern Thailand.

本文引用的文献

1
Genotype List String 1.1: Extending the Genotype List String grammar for describing HLA and Killer-cell Immunoglobulin-like Receptor genotypes.基因型列表字符串 1.1:扩展基因型列表字符串语法,用于描述 HLA 和杀伤细胞免疫球蛋白样受体基因型。
HLA. 2023 Aug;102(2):206-212. doi: 10.1111/tan.15126. Epub 2023 Jun 7.
2
Unrelated Stem Cell Donor HLA Match Likelihood in the US Registry Incorporating HLA-DPB1 Permissive Mismatching.美国注册系统中纳入 HLA-DPB1 允许性错配的无关供者 HLA 匹配可能性。
Transplant Cell Ther. 2023 Apr;29(4):244-252. doi: 10.1016/j.jtct.2022.12.027. Epub 2023 Jan 7.
3
How natural selection shapes genetic differentiation in the MHC region: A case study with Native Americans.
泰国南部游牧狩猎采集人群玛尼格人的HLA多样性与选择特征
Immunogenetics. 2025 Jun 9;77(1):23. doi: 10.1007/s00251-025-01380-0.
4
High Resolution Class I , and - Diversity in Eastern and Southern African Populations.东非和南非人群中高分辨率的I类及多样性
bioRxiv. 2024 Sep 8:2024.09.04.611164. doi: 10.1101/2024.09.04.611164.
自然选择如何塑造 MHC 区域的遗传分化:以美洲原住民为例。
Hum Immunol. 2021 Jul;82(7):523-531. doi: 10.1016/j.humimm.2021.03.005. Epub 2021 Mar 31.
4
Malaria in Venezuela: changes in the complexity of infection reflects the increment in transmission intensity.委内瑞拉疟疾:感染复杂性的变化反映了传播强度的增加。
Malar J. 2020 May 7;19(1):176. doi: 10.1186/s12936-020-03247-z.
5
MHC class I polymorphic Alu insertion (POALIN) allele and haplotype frequencies in the Arabs of the United Arab Emirates and other world populations.MHC Ⅰ类多态性 Alu 插入(POALIN)等位基因和单体型频率在阿联酋阿拉伯人和其他世界人群中的分布。
Int J Immunogenet. 2019 Aug;46(4):247-262. doi: 10.1111/iji.12426. Epub 2019 Apr 25.
6
Limited differentiation among Plasmodium vivax populations from the northwest and to the south Pacific Coast of Colombia: A malaria corridor?从哥伦比亚西北和太平洋海岸南部的间日疟原虫种群分化有限:疟疾走廊?
PLoS Negl Trop Dis. 2019 Mar 28;13(3):e0007310. doi: 10.1371/journal.pntd.0007310. eCollection 2019 Mar.
7
Urban colonization through multiple genetic lenses: The city-fox phenomenon revisited.透过多种基因视角看城市殖民化:再探城市狐狸现象
Ecol Evol. 2019 Jan 31;9(4):2046-2060. doi: 10.1002/ece3.4898. eCollection 2019 Feb.
8
High resolution HLA analysis reveals independent class I haplotypes and amino-acid motifs protective for multiple sclerosis.高分辨率 HLA 分析揭示了独立的 I 类单体型和氨基酸基序对多发性硬化症具有保护作用。
Genes Immun. 2019 Apr;20(4):308-326. doi: 10.1038/s41435-017-0006-8. Epub 2018 Jan 8.
9
Collection and storage of HLA NGS genotyping data for the 17th International HLA and Immunogenetics Workshop.第17届国际HLA与免疫遗传学研讨会HLA二代测序基因分型数据的收集与存储
Hum Immunol. 2018 Feb;79(2):77-86. doi: 10.1016/j.humimm.2017.12.004. Epub 2017 Dec 14.
10
Singularity: Scientific containers for mobility of compute.奇点:用于计算移动性的科学容器。
PLoS One. 2017 May 11;12(5):e0177459. doi: 10.1371/journal.pone.0177459. eCollection 2017.