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STRait Razor v2s:推进基于序列的STR等位基因报告,并拓展至其他标记系统。

STRait Razor v2s: Advancing sequence-based STR allele reporting and beyond to other marker systems.

作者信息

King Jonathan L, Wendt Frank R, Sun Jie, Budowle Bruce

机构信息

Center for Human Identification, University of North Texas Health Science Center, 3500 Camp Bowie Blvd., Fort Worth, TX 76107, USA.

Center for Human Identification, University of North Texas Health Science Center, 3500 Camp Bowie Blvd., Fort Worth, TX 76107, USA.

出版信息

Forensic Sci Int Genet. 2017 Jul;29:21-28. doi: 10.1016/j.fsigen.2017.03.013. Epub 2017 Mar 12.

DOI:10.1016/j.fsigen.2017.03.013
PMID:28343097
Abstract

STRait Razor has provided the forensic community a free-to-use, open-source tool for short tandem repeat (STR) analysis of massively parallel sequencing (MPS) data. STRait Razor v2s (SRv2s) allows users to capture physically phased haplotypes within the full amplicon of both commercial (ForenSeq) and "early access" panels (PowerSeq, Mixture ID). STRait Razor v2s may be run in batch mode to facilitate population-level analysis and is supported by all Unix distributions (including MAC OS). Data are reported in tables in string (haplotype), length-based (e.g., vWA allele 14), and International Society of Forensic Genetics (ISFG)-recommended (vWA [CE 14]-GRCh38-chr12:5983950-5984049 (TAGA) (CAGA) TAGA) formats. STRait Razor v2s currently contains a database of ∼2500 unique sequences. This database is used by SRv2s to match strings to the appropriate allele in ISFG-recommended format. In addition to STRs, SRv2s has configuration files necessary to capture and report haplotypes from all marker types included in these multiplexes (e.g., SNPs, InDels, and microhaplotypes). To facilitate mixture interpretation, data may be displayed from all markers in a format similar to that of electropherograms displayed by traditional forensic software. The download package for SRv2s may be found at https://www.unthsc.edu/graduate-school-of-biomedical-sciences/molecular-and-medical-genetics/laboratory-faculty-and-staff/strait-razor.

摘要

STRait Razor为法医界提供了一个免费使用的开源工具,用于对大规模平行测序(MPS)数据进行短串联重复序列(STR)分析。STRait Razor v2s(SRv2s)允许用户在商业(ForenSeq)和“早期访问”面板(PowerSeq、Mixture ID)的完整扩增子内捕获物理定相单倍型。STRait Razor v2s可以以批处理模式运行,以方便进行群体水平的分析,并且所有Unix发行版(包括MAC OS)都支持该工具。数据以字符串(单倍型)、基于长度(例如,vWA等位基因14)和国际法医遗传学协会(ISFG)推荐(vWA [CE 14]-GRCh38-chr12:5983950-5984049 (TAGA) (CAGA) TAGA)格式的表格形式报告。STRait Razor v2s目前包含一个约2500个独特序列的数据库。SRv2s使用该数据库将字符串与ISFG推荐格式的适当等位基因进行匹配。除了STRs,SRv2s还具有捕获和报告这些多重分析中包含的所有标记类型(例如,SNP、插入缺失和微单倍型)单倍型所需的配置文件。为便于混合样本解释,数据可以以类似于传统法医软件显示的电泳图的格式从所有标记中显示。SRv2s的下载包可在https://www.unthsc.edu/graduate-school-of-biomedical-sciences/molecular-and-medical-genetics/laboratory-faculty-and-staff/strait-razor找到。

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