Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Spain.
National Institute of Standards and Technology, Biomolecular Measurement Division, Gaithersburg, MD, USA.
Forensic Sci Int Genet. 2018 May;34:162-169. doi: 10.1016/j.fsigen.2018.02.017. Epub 2018 Feb 21.
The STR sequence template file published in 2016 as part of the considerations from the DNA Commission of the International Society for Forensic Genetics on minimal STR sequence nomenclature requirements, has been comprehensively revised and audited using the latest GRCh38 genome assembly. The list of forensic STRs characterized was expanded by including supplementary autosomal, X- and Y-chromosome microsatellites in less common use for routine DNA profiling, but some likely to be adopted in future massively parallel sequencing (MPS) STR panels. We outline several aspects of sequence alignment and annotation that required care and attention to detail when comparing sequences to GRCh37 and GRCh38 assemblies, as well as the necessary matching of MPS-based allele descriptions to previously established repeat region structures described in initial sequencing studies of the less well known forensic STRs. The revised sequence guide is now available in a dynamically updated FTP format from the STRidER website with a date-stamped change log to allow users to explore their own MPS data with the most up-to-date forensic STR sequence information compiled in a simple guide.
2016 年,DNA 委员会发布了 STR 序列模板文件,作为国际法医遗传学协会关于最小 STR 序列命名要求的考虑因素之一,该文件已使用最新的 GRCh38 基因组组装进行了全面修订和审核。通过纳入在常规 DNA 分析中较少使用但可能在未来大规模平行测序 (MPS) STR 面板中采用的补充常染色体、X 染色体和 Y 染色体微卫星,用于特征描述的法医 STR 列表得到了扩展。我们概述了在将序列与 GRCh37 和 GRCh38 组装进行比较时需要注意的序列比对和注释的几个方面,以及必须将基于 MPS 的等位基因描述与最初测序研究中描述的不太知名的法医 STR 中先前建立的重复区域结构相匹配。修订后的序列指南现在可从 STRidER 网站以动态更新的 FTP 格式获得,并带有日期标记的变更日志,以便用户使用最新的法医 STR 序列信息探索自己的 MPS 数据,这些信息已在一个简单的指南中编译。