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Applications of massively parallel sequencing in forensic genetics
Thássia Mayra Telles Carratto1, Vitor Matheus Soares Moraes1, Tamara Soledad Frontanilla Recalde2
1Universidade de São Paulo, Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto, Departamento de Química, Laboratório de Pesquisas Forenses e Genômicas, Ribeirão Preto, SP, Brazil.
Genetics and Molecular Biology
|September 19, 2022
Summary
Massively parallel sequencing (MPS) revolutionizes forensic genetics by enabling high-resolution DNA analysis of thousands of markers simultaneously. This advanced technique aids in identifying individuals, determining ancestry, and analyzing complex forensic samples.
Area of Science:
- Forensic Genetics
- Molecular Biology
- Genomics
Background:
- Massively parallel sequencing (MPS), also known as next-generation sequencing, has transformed DNA analysis and genetics.
- Its ability to handle degraded or low-quantity samples makes it highly valuable in forensic science.
- MPS offers high-resolution data by simultaneously analyzing thousands of genetic markers.
Purpose of the Study:
- To review the diverse applications of Massively Parallel Sequencing (MPS) in forensic genetics.
- To highlight how MPS advances traditional forensic DNA analysis.
- To discuss the potential of MPS in complex forensic investigations.
Main Methods:
- Review of current literature on MPS applications in forensic genetics.
- Analysis of MPS capabilities for various genetic markers including STRs, SNPs, and non-coding DNA.
- Exploration of MPS utility in metagenomics and epigenetics for forensic purposes.
Main Results:
- MPS enables the discovery of new polymorphisms and detailed analysis of forensic genetic markers.
- Emergence of novel markers like DIP-STRs, SNP-STR haplotypes, and microhaplotypes for mixture deconvolution.
- MPS facilitates multiplex analysis of SNPs for identity, ancestry, paternity, and phenotype determination.
- MPS applications extend to DNA methylation, mtDNA, mRNA, and microRNA profiling for age estimation, lineage, body fluid ID, and twin discrimination.
- Metagenomic analysis using MPS aids in individual identification, PMI estimation, geolocation, and substrate analysis.
Conclusions:
- Massively parallel sequencing significantly enhances forensic genetic analysis capabilities.
- MPS provides powerful tools for individual identification, kinship analysis, and complex case investigations.
- The versatility of MPS supports a wide range of forensic applications, from traditional DNA profiling to advanced analyses.
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