STRScan

STRScan profiles targeted short tandem repeats (STRs) from whole-genome sequencing (WGS) and next-generation sequencing (NGS) data to enable sensitive detection of STRs for genetic testing and forensic applications.

Key Features:

• Greedy algorithm: Uses a greedy algorithm specifically tailored for targeted STR profiling in NGS data.
• Targeted STR profiling: Performs targeted profiling of short tandem repeats within whole-genome sequencing datasets.
• Increased sensitivity: Detected approximately 20% more STRs in targeted sets that were missed by lobSTR in analyses of the Venter genome and the 1000 Genomes Project datasets.
• Comparison to mapping-based methods: Addresses limitations of whole-genome read mapping approaches used by tools such as lobSTR and STR-FM, which may lack sensitivity.
• Sequencing compatibility: Operates on next-generation sequencing (NGS) and whole-genome sequencing (WGS) data.

Scientific Applications:

• Forensic identity verification: Applied to human identity verification and parental testing in forensic contexts using STR markers.
• Genetic testing and disorder screening: Supports genetic disorder screening and clinical or research genetic testing by profiling STRs implicated in disease.
• Research on STR variation: Enables comprehensive STR profiling in research studies using whole-genome sequencing data.

Methodology:

STRScan employs a greedy algorithm for targeted STR profiling on NGS/WGS data and was evaluated by comparative analyses against mapping-based tools (lobSTR, STR-FM) using the Venter genome and 1000 Genomes Project datasets.