Developmental validation of STRmix™ NGS, a probabilistic genotyping tool for the interpretation of autosomal STRs from forensic profiles generated using NGS. (January 2023)

• Record Type: Journal Article
• Authors: Cheng, Kevin; Bright, Jo-Anne; Kelly, Hannah; Liu, Yao-Yuan; Lin, Meng-Han; Kruijver, Maarten; Taylor, Duncan; Buckleton, John
• Is Part Of: Forensic science international. Volume 62(2023)
• Publication Date: 2023-01
• Subjects: Probabilistic genotyping -- STRs -- Developmental validation -- NGS -- MPS; Forensic genetics -- Periodicals; Génétique légale -- Périodiques; Forensic genetics; Electronic journals; Periodicals; 614.1
• DOI: 10.1016/j.fsigen.2022.102804
• Languages: English
• ISSNs: 1872-4973

Abstract

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. Highlights: Developmental validation of probabilistic genotyping software – STRmix™ NGS. Demonstrate the software's appropriateness to interpret NGS aSTR profiles. Shows that sequence-based stutter models perform better than a length-based model. Compares LRs assigned using sequence-based and length-based allele frequencies.