HipSTR-UI: A cross-platform graphical interface for accessible str genotyping from next-generation sequencing data

Résumé fourni par la source

Next-generation sequencing (NGS) has expanded the scope of forensic genetics by providing sequence-level resolution of Short Tandem Repeats (STRs). We developed HipSTR-UI, a cross-platform graphical interface that integrates precompiled HipSTR binaries for Windows, macOS, and Linux. The interface automates the genotyping workflow, from alignment files (BAM/CRAM) and target regions with the reference genome (FASTA) to the generation of genotypes in VCF format. HipSTR-UI includes a graphical parameter panel and exportable results. The validation was performed using Phase 3 of the 1000 Genomes Project, previously analyzed with the HipSTR command-line version. HipSTR-UI accurately reproduced the results of HipSTR, achieving 100 % concordance in genotype calls. As expected, no discrepancies were observed in concordance rates, discordant loci, or quality scores, since the interface executes the same commands as the original HipSTR tool. HipSTR-UI combines the robustness of HipSTR with a user-friendly and multilingual interface, bridging the gap between advanced sequencing technologies and routine forensic applications. Additionally, it facilitates adoption in routine forensic workflows, including human identification and kinship analysis.

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