Large-scale human genomic resources drive innovations toward forensic intelligent source attribution and precision identification.

Journal: International journal of legal medicine
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Abstract

Large-scale human genomic initiatives and advances in sequencing technologies have expanded the scope and detail of forensic genetics. Deeply sampled ethnolinguistically diverse groups, high-coverage whole-genome sequencing resources, and more comprehensive reference databases now offer unmatched opportunities to improve marker discovery, optimize panel design, and strengthen statistical frameworks for forensic uses. These genomic resources have transformed the development and interpretation of various forensic markers, including short tandem repeats, single-nucleotide polymorphisms, insertions and deletions, microhaplotypes, structural variants, mitochondrial genomes, and Y-chromosome lineages. This revolution has also accelerated innovations in high-density genotyping, massively parallel sequencing, and long-read technologies, enabling better resolution of complex repeats, degraded samples, and uniparental markers. Beyond traditional individual identification and parentage testing, large-scale genomic data support advances in ancestry inference, phenotype prediction, and investigative genetic genealogy, while epigenomic and transcriptomic markers extend forensic capabilities to age estimation, tissue source identification, and environmental exposure reconstruction. The integration of machine learning and population-specific genomic references further improves the accuracy and interpretability of forensic models. These developments collectively move forensic genomics toward a transition from limited marker sets to multi-omics, high-resolution, population-aware frameworks. As genomic datasets continue to grow worldwide, ethical, legal, and social considerations remain crucial to ensure responsible data use, international collaboration, and privacy protection. This review summarizes recent progress in forensic genomic technologies and population resources, describes emerging analytical opportunities, and highlights the directions shaping next-generation precision forensic science.

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