Abstract：
Forensic Investigative Genetic Genealogy, a recent sub discipline of forensic genomics, leverages the high throughput and sensitivity of detection of next generation sequencing and established genetic and genealogical approaches to support the identification of human remains from missing persons investigations and investigative lead generation in violent crimes. To facilitate forensic DNA evidence analysis, the ForenSeq® Kintelligence multiplex, consisting of 10,230 SNPs, was developed. Design of the ForenSeq Kintelligence Kit, the MiSeq FGx® Sequencing System and the ForenSeq Universal Analysis Software is described. Developmental validation in accordance with SWGDAM guidelines and forensic quality assurance standards, using single source samples, is reported for the end-to-end workflow from library preparation to data interpretation. Performance metrics support the conclusion that more genetic information can be obtained from challenging samples compared to other commercially available forensic targeted DNA assays developed for capillary electrophoresis (CE) or other current next generation sequencing (NGS) kits due to the higher number of markers, the overall shorter amplicon sizes (97.8% <150 bp), and kit design. Data indicate that the multiplex is robust and fit for purpose for a wide range of quantity and quality samples. The ForenSeq Kintelligence Kit and the Universal Analysis Software allow transfer of the genetic component of forensic investigative genetic genealogy to the operational forensic laboratory.
摘要：
法医调查遗传谱系，法医基因组学的一个分支学科，利用下一代测序检测的高通量和敏感性，以及已建立的遗传和家谱方法，支持从失踪人员调查和暴力犯罪调查线索产生中识别人类遗骸。为了便于法医DNA证据分析，ForenSeq®Kintelligence多路复用，由10,230个SNP组成，已开发。ForenSeqKintelligenceKit的设计，描述了MiSeqFGx®测序系统和ForenSeq通用分析软件。根据SWGDAM指南和法医质量保证标准进行开发验证，使用单一来源样本，报告从库准备到数据解释的端到端工作流程。性能指标支持这样的结论，即与为毛细管电泳（CE）或其他当前的下一代测序（NGS）试剂盒开发的其他市售法医靶向DNA测定相比，可以从具有挑战性的样品中获得更多的遗传信息。总体较短的扩增子大小(97.8%<150bp)，和套件设计。数据表明,多重是稳健的,并且适合用于宽范围的数量和质量样品的目的。ForenSeqKintelligence工具包和通用分析软件允许将法医调查遗传家谱的遗传成分转移到可操作的法医实验室。
