Pedroza Matute Sharlize, Iyavoo Sasitaran
School of Natural Sciences, University of Lincoln, Brayford Pool, Lincoln, LN6 7TS, UK.
AttoGroup Limited, Scottow Enterprise Park, Badersfield, Norwich, NR10 5FB, UK.
BMC Genomics. 2025 May 28;26(1):541. doi: 10.1186/s12864-025-11723-6.
Forensic DNA analysis plays a pivotal role in personal identification, kinship assessment, and criminal investigations, with Short Tandem Repeat (STR) typing via capillary electrophoresis (CE) long established as the gold standard. However, CE-based STR analysis faces notable limitations in multiplexing capacity, the interpretation of degraded or mixed samples, and the resolution of complex kinship relationships. Emerging technologies such as Next Generation Sequencing (NGS) and Single Nucleotide Polymorphism (SNP) microarrays present promising alternatives that can address these shortcomings and expand the scope of forensic DNA testing. Despite their potential, the adoption of these methods in routine forensic practice remains limited due to high costs, technical complexity, and a lack of standardised protocols and legal frameworks. This review critically examines the capabilities, limitations, and current applications of NGS and SNP microarrays in comparison to traditional STR CE profiling. NGS enables STR sequencing and SNP typing with enhanced discriminatory power, better performance with degraded DNA, and improved mixture deconvolution. Conversely, SNP microarrays offer a cost-effective solution for extended kinship testing, Forensic Investigative Genetic Genealogy (FIGG), and phenotypic prediction, though they are less effective with low-quality samples and DNA mixtures. Ethical, legal, and privacy concerns, particularly surrounding the use of Forensic DNA Phenotyping (FDP) and consumer genetic data in FIGG, further complicate their integration into forensic workflows. While significant challenges remain, technological advancements and growing regulatory efforts point towards an achievable path for wider implementation. A hybrid approach that combines STR CE for routine casework with NGS and SNP microarrays for complex scenarios, supported by investments in bioinformatics training, database expansion, and ethical governance, offers a practical strategy for integrating these technologies into future forensic practice.
法医DNA分析在个人识别、亲缘关系评估和刑事调查中起着关键作用，通过毛细管电泳（CE）进行短串联重复序列（STR）分型长期以来一直是金标准。然而，基于CE的STR分析在多重分析能力、降解或混合样本的解读以及复杂亲缘关系的解析方面面临显著限制。下一代测序（NGS）和单核苷酸多态性（SNP）微阵列等新兴技术提供了有前景的替代方案，可以解决这些缺点并扩大法医DNA检测的范围。尽管它们具有潜力，但由于成本高、技术复杂以及缺乏标准化协议和法律框架，这些方法在常规法医实践中的应用仍然有限。本综述批判性地审视了NGS和SNP微阵列与传统STR CE分析相比的能力、局限性和当前应用。NGS能够进行STR测序和SNP分型，具有更高的鉴别力，对降解DNA表现更好，并且能够改善混合物解卷积。相反，SNP微阵列为扩展亲缘关系检测、法医调查遗传系谱学（FIGG）和表型预测提供了具有成本效益的解决方案，尽管它们对低质量样本和DNA混合物的效果较差。伦理、法律和隐私问题，特别是围绕法医DNA表型分析（FDP）和FIGG中消费者遗传数据的使用，进一步使它们融入法医工作流程变得复杂。虽然重大挑战仍然存在，但技术进步和日益加强的监管努力为更广泛的实施指明了一条可行之路。一种将常规案件工作中的STR CE与复杂场景中的NGS和SNP微阵列相结合的混合方法，在生物信息学培训、数据库扩展和伦理治理方面的投资支持下，为将这些技术融入未来法医实践提供了一种实用策略。
