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STRmix™ NGS 的开发验证,一种用于解释使用 NGS 生成的法医 STR 图谱的常染色体 STR 概率基因分型工具。

Developmental validation of STRmix™ NGS, a probabilistic genotyping tool for the interpretation of autosomal STRs from forensic profiles generated using NGS.

机构信息

Institute of Environmental Science and Research Limited, Private Bag 92021, Auckland 1142, New Zealand.

Institute of Environmental Science and Research Limited, Private Bag 92021, Auckland 1142, New Zealand.

出版信息

Forensic Sci Int Genet. 2023 Jan;62:102804. doi: 10.1016/j.fsigen.2022.102804. Epub 2022 Nov 8.

Abstract

We describe the developmental validation of the probabilistic genotyping software - STRmix™ NGS - developed for the interpretation of forensic DNA profiles containing autosomal STRs generated using next generation sequencing (NGS) also known as massively parallel sequencing (MPS) technologies. Developmental validation was carried out in accordance with the Scientific Working Group on DNA Analysis Methods (SWGDAM) Guidelines for the Validation of Probabilistic Genotyping Systems and the International Society for Forensic Genetics (ISFG) recommendations and included sensitivity and specificity testing, accuracy, precision, and the interpretation of case-types samples. The results of developmental validation demonstrate the appropriateness of the software for the interpretation of profiles developed using NGS technology.

摘要

我们描述了概率基因分型软件 STRmix™ NGS 的开发验证,该软件用于解释包含使用下一代测序(NGS)技术生成的常染色体 STR 的法医 DNA 图谱,也称为大规模平行测序(MPS)技术。开发验证是根据 DNA 分析方法科学工作组(SWGDAM)的概率基因分型系统验证指南以及国际法医遗传学协会(ISFG)的建议进行的,包括灵敏度和特异性测试、准确性、精密度以及案例类型样本的解释。开发验证的结果表明该软件适用于解释使用 NGS 技术开发的图谱。

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