{"title":"Artificial intelligence in forensic genetics: a multi-database bibliometric and science-mapping analysis (2003-2026).","authors":"Gianmarco Sirago, Susanna Sabato, Biagio Solarino, Alessandro Dell'Erba, Davide Ferorelli","doi":"10.1007/s12024-026-01372-w","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Artificial intelligence, machine learning and computational prediction are entering forensic genetic workflows, from probabilistic DNA-profile interpretation to the prediction of externally visible characteristics, biogeographical ancestry and age. This study maps the structure of that literature and interprets it in terms of translational maturity, to support research prioritisation and validation agendas.</p><p><strong>Methods: </strong>Two complementary retrieval arms were executed between 10 and 13 September 2026: a venue-anchored search of 80 forensic and genetics journals derived from the Scopus Source List, and a topic-only probe with no source restriction, both applied to Scopus and Web of Science. The probe was introduced to measure what a source-restricted strategy costs in recall, and was incorporated into the design once more than half of the additional records it returned proved eligible. All 728 unique records retrieved were screened for eligibility by two independent raters, with agreement computed on the independent codings (Cohen kappa 0.708 to 0.806). Analyses were computed on three corpora: performance indicators on all documents, conceptual structure on the records carrying index terms, and citation structure on Web of Science coverage.</p><p><strong>Results: </strong>The corpus comprises 520 documents from 108 sources and 1,908 authors, with 15.63% annual growth over complete years and 23.86 citations per document; four documents in five were published from 2017 onwards. The literature is organised around a single publishing nucleus accounting for 39.0% of documents and forming the entire first Bradford zone, alongside a dispersed tail of 100 sources that is more recent and substantially less cited; a quarter of the eligible literature lies outside the venue-anchored frame. Index-term co-occurrence analysis resolves into three thematic neighbourhoods spanning marker-based profiling and probabilistic interpretation, epigenetic age estimation, and sequencing with body-fluid identification. The number of clusters depends on the resolution parameter and on the composition of the corpus, and is reported with a formal stability analysis rather than as a finding. Contemporary neural paradigms are largely absent, and the two-arm design shows this absence to be a property of the field rather than of where it publishes.</p><p><strong>Conclusion: </strong>Artificial intelligence has entered forensic genetics along distinct trajectories that differ in validation maturity, operational implementation and evidential admissibility. Validation conducted prospectively and across laboratories, uncertainty expressed in evidential terms, and reasoning that can be contested in court, rather than predictive performance alone, determine readiness for casework.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":""},"PeriodicalIF":1.6000,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Forensic Science, Medicine and Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12024-026-01372-w","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, LEGAL","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose: Artificial intelligence, machine learning and computational prediction are entering forensic genetic workflows, from probabilistic DNA-profile interpretation to the prediction of externally visible characteristics, biogeographical ancestry and age. This study maps the structure of that literature and interprets it in terms of translational maturity, to support research prioritisation and validation agendas.
Methods: Two complementary retrieval arms were executed between 10 and 13 September 2026: a venue-anchored search of 80 forensic and genetics journals derived from the Scopus Source List, and a topic-only probe with no source restriction, both applied to Scopus and Web of Science. The probe was introduced to measure what a source-restricted strategy costs in recall, and was incorporated into the design once more than half of the additional records it returned proved eligible. All 728 unique records retrieved were screened for eligibility by two independent raters, with agreement computed on the independent codings (Cohen kappa 0.708 to 0.806). Analyses were computed on three corpora: performance indicators on all documents, conceptual structure on the records carrying index terms, and citation structure on Web of Science coverage.
Results: The corpus comprises 520 documents from 108 sources and 1,908 authors, with 15.63% annual growth over complete years and 23.86 citations per document; four documents in five were published from 2017 onwards. The literature is organised around a single publishing nucleus accounting for 39.0% of documents and forming the entire first Bradford zone, alongside a dispersed tail of 100 sources that is more recent and substantially less cited; a quarter of the eligible literature lies outside the venue-anchored frame. Index-term co-occurrence analysis resolves into three thematic neighbourhoods spanning marker-based profiling and probabilistic interpretation, epigenetic age estimation, and sequencing with body-fluid identification. The number of clusters depends on the resolution parameter and on the composition of the corpus, and is reported with a formal stability analysis rather than as a finding. Contemporary neural paradigms are largely absent, and the two-arm design shows this absence to be a property of the field rather than of where it publishes.
Conclusion: Artificial intelligence has entered forensic genetics along distinct trajectories that differ in validation maturity, operational implementation and evidential admissibility. Validation conducted prospectively and across laboratories, uncertainty expressed in evidential terms, and reasoning that can be contested in court, rather than predictive performance alone, determine readiness for casework.
目的:人工智能、机器学习和计算预测正在进入法医遗传工作流程,从概率dna图谱解释到外部可见特征、生物地理血统和年龄的预测。本研究绘制了该文献的结构,并根据翻译成熟度对其进行了解释,以支持研究优先级和验证议程。方法:在2026年9月10日至13日期间进行了两项互补检索:一项是基于Scopus来源列表的80种法医和遗传学期刊的地点锚定检索,另一项是不受来源限制的主题探针,均应用于Scopus和Web of Science。引入探针是为了衡量来源限制策略在召回方面的成本,一旦它返回的额外记录中有一半以上被证明是合格的,就将探针纳入设计。检索到的所有728条唯一记录由两个独立的评分者筛选是否合格,并根据独立编码计算一致性(Cohen kappa 0.708至0.806)。对三个语料库进行分析计算:所有文件的性能指标,带有索引术语的记录的概念结构,以及Web of Science报道的引文结构。结果:该语料库包含520篇文献,108个来源,1908位作者,年增长率为15.63%,平均引用23.86次;从2017年起,五分之四的文件被发布。文献是围绕一个单一的出版核心组织的,占文档的39.0%,形成了整个第一布拉德福德区,以及100个来源的分散尾部,这些来源是最近的,基本上很少被引用;四分之一的合格文献位于地点锚定框架之外。索引项共现分析分为三个主题领域,包括基于标记的分析和概率解释、表观遗传年龄估计和体液鉴定测序。聚类的数量取决于分辨率参数和语料库的组成,并与正式的稳定性分析一起报告,而不是作为一个发现。当代神经范式在很大程度上是缺席的,双臂设计表明这种缺席是该领域的属性,而不是它发表的地方。结论:人工智能已经沿着不同的轨迹进入法医遗传学,这些轨迹在验证成熟度、操作实施和证据可采性方面存在差异。通过前瞻性和跨实验室进行的验证,以证据术语表达的不确定性,以及可以在法庭上提出异议的推理,而不是单独的预测性能,决定了案例工作的准备情况。
期刊介绍:
Forensic Science, Medicine and Pathology encompasses all aspects of modern day forensics, equally applying to children or adults, either living or the deceased. This includes forensic science, medicine, nursing, and pathology, as well as toxicology, human identification, mass disasters/mass war graves, profiling, imaging, policing, wound assessment, sexual assault, anthropology, archeology, forensic search, entomology, botany, biology, veterinary pathology, and DNA. Forensic Science, Medicine, and Pathology presents a balance of forensic research and reviews from around the world to reflect modern advances through peer-reviewed papers, short communications, meeting proceedings and case reports.