单倍型:集单倍型分期、网络构建和单倍网计算于一体的用户友好型工具

IF 2.4 Q2 MATHEMATICAL & COMPUTATIONAL BIOLOGY Bioinformatics advances Pub Date : 2024-06-05 DOI:10.1093/bioadv/vbae083
Miguel Vences, Stefanos Patmanidis, Jan-Christopher Schmidt, Michael Matschiner, Aurélien Miralles, Susanne S Renner
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引用次数: 0

摘要

单倍型网络是可视化等位基因之间关系的常规方法。这种对单锁点数据的可视化分析仍然非常重要,尤其是在物种诊断和定界方面,因为在综合分类学的框架下,通常只有有限的序列数据和其他数据集。在二倍体生物中,这通常需要分离("分阶段")具有杂合位置的序列,通常需要单独的程序来进行分阶段、输入文件的重新格式化和单倍型网络构建。因此,我们开发了 Hapsolutely,这是一个用户友好型程序,具有符合人体工程学的图形用户界面(GUI),可将单焦点序列的单倍型分期与网络/系谱重建的五种方法整合在一起。 在实现的新选项中,Hapsolutely 整合了单倍型网络的分期和图形重建步骤,支持以常见的 SPART 和 SPART-XML 格式输入物种分区数据,并计算和可视化单倍网络和重组字段,从而以图形方式比较等位基因分布和子集之间的等位基因共享情况,达到物种划分的目的。这款新工具是专门针对阿尔法分类学的工作流程而开发的,在阿尔法分类学中,探索不同物种分区之间的重组字段可能有助于物种划分。 Hapsolutely 是用 Python 编写的,并将 Phase、SeqPHASE 和 PopART 的代码整合到 C ++ 和 Haxe 中。可从 https://www.itaxotools.org 下载编译后的 MS Windows 和 Mac OS 单机版可执行文件以及详细手册;源代码可从 GitHub (https://github.com/iTaxoTools/Hapsolutely) 公开获取。
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Hapsolutely: a user-friendly tool integrating haplotype phasing, network construction and haploweb calculation
Haplotype networks are a routine approach to visualize relationships among alleles. Such visual analysis of single-locus data is still of importance, especially in species diagnosis and delimitation, where a limited amount of sequence data usually are available and sufficient, along with other data sets in the framework of integrative taxonomy. In diploid organisms, this often requires separating (‘phasing’) sequences with heterozygotic positions, and typically separate programs are required for phasing, reformatting of input files, and haplotype network construction. We therefore developed Hapsolutely, a user-friendly program with an ergonomic graphical user interface (GUI) that integrates haplotype phasing from single-locus sequences with five approaches for network/genealogy reconstruction. Among the novel options implemented, Hapsolutely integrates phasing and graphical reconstruction steps of haplotype networks, supports input of species partition data in the common SPART and SPART-XML formats, and calculates and visualizes haplowebs and fields for recombination, thus allowing graphical comparison of allele distribution and allele sharing among subsets for the purpose of species delimitation. The new tool has been specifically developed with a focus on the workflow in alpha-taxonomy, where exploring fields for recombination across alternative species partitions may help species delimitation. Hapsolutely is written in Python, and integrates code from Phase, SeqPHASE and PopART in C ++ and Haxe. Compiled stand-alone executables for MS Windows and Mac OS along with a detailed manual can be downloaded from https://www.itaxotools.org; the source code is openly available on GitHub (https://github.com/iTaxoTools/Hapsolutely).
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