Forensic Genetics and SNP Analysis

Forensic genetics applies molecular biology to legal and investigative contexts by analysing genetic markers to identify individuals, establish kinship and infer biogeographical ancestry or externally visible traits. Single-nucleotide polymorphisms (SNPs), which are abundant single-base variations scattered throughout the genome, have become central to high-resolution forensic analyses due to their low mutation rate, amenability to high-throughput platforms and suitability for degraded samples. The integration of SNP genotyping with next-generation sequencing and advanced bioinformatics has transformed casework, enabling more precise mixture deconvolution, rapid on-site analysis and probabilistic phenotype prediction. Applications span criminal investigations, disaster victim identification and missing-person enquiries, while ethical considerations around data privacy and database access continue to shape the field. Ongoing innovation aims to combine SNP data with other marker systems and machine-learning approaches to enhance interpretive power and operational efficiency.

Research from Nature Portfolio

Recent investigations have explored the application of portable nanopore sequencing platforms to forensic SNP profiling. One seminal study demonstrated that a handheld nanopore device could accurately genotype the majority of loci in a 52-plex SNP assay developed for human identification. The work identified sequence-context challenges at homopolymeric regions but established that, by excluding problematic sites, nanopore-based workflows can achieve concordance with conventional genotyping approaches. This proof-of-concept confirms the technical feasibility of integrating real-time sequencing with streamlined library preparation to support on-site forensic analyses and underscores the potential for field-deployable SNP profiling in time-sensitive investigations.

Forensic Genetics and SNP Analysis publication trend

The graph below shows the total number of articles in forensic genetics and snp analysis across all publications each year (not limited to Nature Index journals).

Technical terms

Single-nucleotide polymorphism (SNP): A single-base variation in the DNA sequence among individuals, serving as a stable and abundant genetic marker for identity, ancestry and trait inference.

Nanopore sequencing: A real-time DNA sequencing technology that detects nucleotide-specific disruptions in ionic current as single DNA molecules pass through a biological pore, enabling portable and rapid genetic analysis.

Forensic investigative genetic genealogy: A method combining SNP-based genetic profiles with genealogical databases to establish familial relationships and identify unknown individuals through kinship inference.

Phenotype prediction: The use of genetic markers to statistically infer physical traits such as pigmentation, stature or hair colour from an individual’s DNA profile.

Microhaplotype: A genomic region containing multiple closely linked SNPs that define several haplotypes within a short DNA segment, enhancing discriminative power in mixture analysis and ancestry inference.

References

1. Forensic SNP Genotyping using Nanopore MinION Sequencing. Scientific Reports (2017).
2. Forensic investigative genetic genealogy: expanding pedigree tracing and genetic inquiry in the genomic era. Journal of Genetics and Genomics (2024).
3. Should police have access to genetic genealogy databases? Capturing the Golden State Killer and other criminals using a controversial new forensic technique. PLOS Biology (2018).
4. Global skin colour prediction from DNA. Human Genetics (2017).
5. Ancestry inference of 96 population samples using microhaplotypes. International Journal of Legal Medicine (2017).