International Journal of Forensic Science and Criminal Investigation
Forensic Genetics in the Genomic Era: STR, SNP and Epigenetic Markers T hrough the Lens of NGS – A Review Article
1Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Türkiye
2Department of Cancer Genetics, Oncology Institute, Istanbul University, Istanbul, Türkiye
Corresponding Authors
Keywords
Abstract
Forensic genetics has entered a transformative genomic era with the integration of Next-Generation Sequencing (NGS) technologies, enabling high-resolution analysis far beyond the capabilities of conventional capillary electrophoresis based Short Tandem Repeat (STR) profiling. While STRs remain the cornerstone of human identification, NGS provides sequence-level characterization that increases discriminatory power and improves interpretation of degraded samples and complex mixtures. In parallel, the incorporation of Single Nucleotide Polymorphisms (SNPs)-including identity, ancestry informative, and phenotype-associated markers-has expanded the forensic genetic toolkit, offering new opportunities for ancestry estimation, kinship analysis, and biogeographical inference. Moreover, epigenetic markers, particularly DNA methylation signatures, have emerged as powerful tools for estimating chronological age and identifying tissue or body f luid origin, thereby providing complementary information beyond individual identification.
This review synthesizes recent advances in STR, SNP, and epigenetic marker analysis through the lens of NGS and highlights their combined potential in modern forensic applications. We discuss the technical advantages, current implementations, and analytical challenges associated with massively parallel sequencing, including validation requirements, bioinformatic complexity, and ethical considerations. As genomic technologies continue to evolve, integrated multi-marker approaches are expected to redefine standards in forensic DNA analysis, enabling more comprehensive molecular profiling and improved investigative capabilities. This review aims to critically evaluate the integration of STRs, SNPs, and epigenetic markers within NGS-based forensic workflows and to highlight current limitations and future perspectives for routine forensic implementation.
