Carola Sophia Heinzel , Lennart Purucker , Frank Hutter , Peter Pfaffelhuber
{"title":"通过机器学习推进生物地理祖先预测","authors":"Carola Sophia Heinzel , Lennart Purucker , Frank Hutter , Peter Pfaffelhuber","doi":"10.1016/j.fsigen.2025.103290","DOIUrl":null,"url":null,"abstract":"<div><div>Tools like <span>Snipper</span> or the Admixture Model count as state-of-the-art methods in forensic science for biogeographical ancestry. However, they have not been systematically compared to classifiers widely used in other disciplines. Noting that genetic data have a tabular form, this study addresses this gap by benchmarking forensic classifiers against <span>TabPFN</span>, a cutting-edge, general-purpose machine learning classifier for tabular data. The comparison evaluates performance using metrics such as accuracy – the proportion of correct classifications – and ROC AUC. We examine classification tasks for individuals at both the intracontinental and continental levels, based on a published dataset for training and testing. Our results reveal significant performance differences between methods, with <span>TabPFN</span> consistently achieving the best results for accuracy, ROC AUC and log loss. E.g., for accuracy, <span>TabPFN</span> improves <span>SNIPPER</span> from 84% to 93% on a continental scale using eight populations, and from 43% to 48% for inter-European classification with ten populations.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"79 ","pages":"Article 103290"},"PeriodicalIF":3.2000,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Advancing biogeographical ancestry predictions through machine learning\",\"authors\":\"Carola Sophia Heinzel , Lennart Purucker , Frank Hutter , Peter Pfaffelhuber\",\"doi\":\"10.1016/j.fsigen.2025.103290\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Tools like <span>Snipper</span> or the Admixture Model count as state-of-the-art methods in forensic science for biogeographical ancestry. However, they have not been systematically compared to classifiers widely used in other disciplines. Noting that genetic data have a tabular form, this study addresses this gap by benchmarking forensic classifiers against <span>TabPFN</span>, a cutting-edge, general-purpose machine learning classifier for tabular data. The comparison evaluates performance using metrics such as accuracy – the proportion of correct classifications – and ROC AUC. We examine classification tasks for individuals at both the intracontinental and continental levels, based on a published dataset for training and testing. Our results reveal significant performance differences between methods, with <span>TabPFN</span> consistently achieving the best results for accuracy, ROC AUC and log loss. E.g., for accuracy, <span>TabPFN</span> improves <span>SNIPPER</span> from 84% to 93% on a continental scale using eight populations, and from 43% to 48% for inter-European classification with ten populations.</div></div>\",\"PeriodicalId\":50435,\"journal\":{\"name\":\"Forensic Science International-Genetics\",\"volume\":\"79 \",\"pages\":\"Article 103290\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2025-06-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Forensic Science International-Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1872497325000705\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Forensic Science International-Genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1872497325000705","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Advancing biogeographical ancestry predictions through machine learning
Tools like Snipper or the Admixture Model count as state-of-the-art methods in forensic science for biogeographical ancestry. However, they have not been systematically compared to classifiers widely used in other disciplines. Noting that genetic data have a tabular form, this study addresses this gap by benchmarking forensic classifiers against TabPFN, a cutting-edge, general-purpose machine learning classifier for tabular data. The comparison evaluates performance using metrics such as accuracy – the proportion of correct classifications – and ROC AUC. We examine classification tasks for individuals at both the intracontinental and continental levels, based on a published dataset for training and testing. Our results reveal significant performance differences between methods, with TabPFN consistently achieving the best results for accuracy, ROC AUC and log loss. E.g., for accuracy, TabPFN improves SNIPPER from 84% to 93% on a continental scale using eight populations, and from 43% to 48% for inter-European classification with ten populations.
期刊介绍:
Forensic Science International: Genetics is the premier journal in the field of Forensic Genetics. This branch of Forensic Science can be defined as the application of genetics to human and non-human material (in the sense of a science with the purpose of studying inherited characteristics for the analysis of inter- and intra-specific variations in populations) for the resolution of legal conflicts.
The scope of the journal includes:
Forensic applications of human polymorphism.
Testing of paternity and other family relationships, immigration cases, typing of biological stains and tissues from criminal casework, identification of human remains by DNA testing methodologies.
Description of human polymorphisms of forensic interest, with special interest in DNA polymorphisms.
Autosomal DNA polymorphisms, mini- and microsatellites (or short tandem repeats, STRs), single nucleotide polymorphisms (SNPs), X and Y chromosome polymorphisms, mtDNA polymorphisms, and any other type of DNA variation with potential forensic applications.
Non-human DNA polymorphisms for crime scene investigation.
Population genetics of human polymorphisms of forensic interest.
Population data, especially from DNA polymorphisms of interest for the solution of forensic problems.
DNA typing methodologies and strategies.
Biostatistical methods in forensic genetics.
Evaluation of DNA evidence in forensic problems (such as paternity or immigration cases, criminal casework, identification), classical and new statistical approaches.
Standards in forensic genetics.
Recommendations of regulatory bodies concerning methods, markers, interpretation or strategies or proposals for procedural or technical standards.
Quality control.
Quality control and quality assurance strategies, proficiency testing for DNA typing methodologies.
Criminal DNA databases.
Technical, legal and statistical issues.
General ethical and legal issues related to forensic genetics.