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STRinNGS v2.0: Improved tool for analysis and reporting of STR sequencing data
Carina Grøntved Jønck1, Xiaoqin Qian2, Halimureti Simayijiang1
1Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Forensic Science International. Genetics
|July 6, 2020
Summary
The updated STRinNGS v2.0 software accurately analyzes high-throughput sequencing data for Short Tandem Repeats (STRs). This tool simplifies complex genetic results, improving genotype accuracy and reducing manual correction needs for forensic analysis.
Area of Science:
- Forensic genetics
- Bioinformatics
- Computational biology
Background:
- High-throughput sequencing of Short Tandem Repeats (STRs) generates large datasets requiring specialized software for efficient analysis.
- Existing tools may not fully address the complexities of multiplexed STR amplicon data, necessitating improved solutions.
- Accurate genotype calling is crucial for forensic applications and population genetics studies.
Purpose of the Study:
- To introduce STRinNGS v2.0, an enhanced software tool for analyzing high-throughput sequencing data of multiplexed STR amplicons.
- To improve the accuracy and efficiency of STR genotype calling and data interpretation.
- To provide a user-friendly and freely available solution for forensic and research laboratories.
Main Methods:
- STRinNGS v2.0 employs criteria including read depth, noise levels, flanking region characteristics, and genotype balance for prediction.
- The software analyzes both STR and flanking regions, assigning allele names according to established guidelines and an in-house nomenclature.
- Data generated by STRinNGS v2.0 is formatted for direct upload to the STRidER database.
Main Results:
- Re-analysis of 627 sample files showed high concordance with previous typing, with only 0.2% genotype calls requiring manual correction.
- STRinNGS v2.0 demonstrated high accuracy, with only 14 discordant genotype calls out of 627 samples compared to prior analyses.
- The software correctly identified discrepancies, often highlighting manual oversights in previous analyses.
Conclusions:
- STRinNGS v2.0 is a robust and accurate tool for analyzing high-throughput sequencing data of STRs in forensic and research settings.
- The software effectively simplifies complex genetic data, enhancing the reliability of genotype calls.
- STRinNGS v2.0 offers a valuable, freely available resource for the scientific community, improving data management and analysis workflows.
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