STRait Razor v2s: Advancing sequence-based STR allele reporting and beyond to other marker systems

Area of Science:

• Forensic Genetics
• Bioinformatics
• Computational Biology

Background:

• Short tandem repeat (STR) analysis is crucial in forensic science.
• Massively parallel sequencing (MPS) generates large datasets for genetic analysis.
• Existing tools may have limitations in handling complex MPS data and diverse marker types.

Purpose of the Study:

• To introduce STRait Razor v2s (SRv2s), a free, open-source software for STR analysis of MPS data.
• To enable the capture of physically phased haplotypes within full amplicons.
• To support population-level analysis and diverse forensic marker types.

Main Methods:

• SRv2s processes MPS data for STR analysis.
• It captures physically phased haplotypes from commercial and early access panels.
• The tool supports batch mode processing and is compatible with Unix-based systems.
• Data output is available in multiple formats, including ISFG-recommended nomenclature.
• An integrated database of unique sequences aids in allele matching.

Main Results:

• SRv2s successfully captures physically phased haplotypes for STR analysis.
• The software handles various marker types, including STRs, SNPs, InDels, and microhaplotypes.
• Population-level analysis is facilitated through batch mode processing.
• Data can be displayed in formats comparable to traditional forensic software electropherograms.
• The tool utilizes a database of approximately 2500 unique sequences for accurate allele identification.

Conclusions:

• STRait Razor v2s is a versatile, open-source tool for forensic MPS data analysis.
• It enhances the analysis of STRs and other genetic markers, aiding in mixture interpretation.
• The software supports population genetics studies and diverse forensic applications.