Individual Identification Methods and Systems Based on Whole-Genome Single Nucleotide Polymorphism Data

By screening for linkage-balanced SNP loci and calculating the total likelihood ratio, the dynamics and linkage disequilibrium issues of WGA-WGS data were resolved, ensuring the fairness and reliability of the evidence interpretation process for whole-genome sequencing data, and making it suitable for individual identification in forensic genetics.

CN121459920BActive Publication Date: 2026-05-26SICHUAN UNIV
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Patent Information

Application Number
CN202511476725.2
Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
Filing Date
2025-10-16
Publication Date
2026-05-26
Estimated Expiration
2045-10-16

AI Technical Summary

Technical Problem

Existing STR typing technology systems are not efficient enough when processing trace amounts of biodegradable biological samples. WGA-WGS data suffer from dynamism, error specificity, and linkage disequilibrium, making it difficult to effectively interpret evidence.

Method used

Based on whole-genome single nucleotide polymorphism data, by screening for linkage equilibrium SNP sites, calculating the total likelihood ratio, constructing an automated evidence interpretation process, integrating typing error rates, avoiding subjective selection bias, and ensuring the impartiality and reproducibility of evidence.

Benefits of technology

It has achieved high-throughput and compliant site preparation of WGA-WGS data, scientifically handled typing errors, ensured the fairness of evidence interpretation and the reproducibility of results, and solved key technical problems of WGA-WGS technology in legal science practice.

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Abstract

This invention discloses an individual identification method and system based on whole-genome single nucleotide polymorphism (SNP) data, belonging to the field of forensic genetics technology. The specific steps are as follows: obtaining the intersection SNP sites of the sample pairs to be identified, constructing a linkage-equilibrium SNP site set; evaluating the individual identification ability of the linkage-equilibrium SNP site set based on a power evaluation index, generating an optimal SNP site set; under the set mutual exclusion hypothesis, calculating the probability value of each optimal SNP site based on the population genotype frequency and the prior genotyping error rate, and calculating the total likelihood ratio based on the probability values ​​of each optimal SNP site; selecting a supporting hypothesis or hypothesis based on the relationship between the total likelihood ratio and a preset threshold. This invention, by introducing a semi-continuous likelihood ratio calculation model that integrates the genotyping error rate, can scientifically handle and explain the unavoidable genotyping errors in whole-genome sequencing data.
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