Advancing FDSTools by integrating STRNaming 1.1. (November 2022)

• Record Type: Journal Article
• Authors: Hoogenboom, Jerry; Weiler, N.; Busscher, L.; Struik, L.; Sijen, Titia; van der Gaag, Kristiaan J.
• Is Part Of: Forensic science international. Volume 61(2022)
• Publication Date: 2022-11
• Subjects: FDSTools -- STR -- MPS -- Nomenclature -- STRNaming -- ForenSeq; STR Short Tandem Repeat -- MPS Massively Parallel Sequencing; Forensic genetics -- Periodicals; Génétique légale -- Périodiques; Forensic genetics; Electronic journals; Periodicals; 614.1
• DOI: 10.1016/j.fsigen.2022.102768
• Languages: English
• ISSNs: 1872-4973

Abstract

Abstract: The introduction of massively parallel sequencing in forensic analysis has been facilitated with typing kits, analysis software and allele naming tools such as the ForenSeq DNA Signature Prep (DSP) kit, FDSTools and STRNaming respectively. Here we describe how FDSTools 2.0 with integrated and refined STRNaming nomenclature was validated for implementation under ISO 17025 accreditation for the ForenSeq DSP kit. Newly-added options result in efficient automatic allele calling for the majority of markers while specific settings are applied for 'novel' sequence variants to avoid the calling of remaining variable noise observed in samples sequenced with the ForenSeq DSP kit that seem to arise in the PCR. Genome-wide built-in reference data allows for greatly simplified configuration of allele naming for human targets. Highlights: STRNaming 1.1 was integrated in FDSTools 2.0. STRNaming auto-assigns informative names to MPS STR alleles, simplifying assay configuration in FDSTools. FDSTools is provided with additional allele calling options facilitating automated high-throughput analysis of reference samples. FDSTools analysis settings for automated analysis of a large part of the ForenSeq DNA Signature Prep kit were determined.