Produção Nacional
Revisado por pares
Applications of massively parallel sequencing in forensic genetics
2022; Brazilian Society of Genetics; Volume: 45; Issue: 3 suppl 1 Linguagem: Inglês
10.1590/1678-4685-gmb-2022-0077
ISSN1678-4685
AutoresThássia Mayra Telles Carratto, Vitor M. S. Moraes, Tamara Soledad Frontanilla Recalde, Maria Luiza Guimarães de Oliveira, Celso Teixeira Mendes‐Junior,
Tópico(s)Molecular Biology Techniques and Applications
ResumoMassively parallel sequencing, also referred to as next-generation sequencing, has positively changed DNA analysis, allowing further advances in genetics. Its capability of dealing with low quantity/damaged samples makes it an interesting instrument for forensics. The main advantage of MPS is the possibility of analyzing simultaneously thousands of genetic markers, generating high-resolution data. Its detailed sequence information allowed the discovery of variations in core forensic short tandem repeat loci, as well as the identification of previous unknown polymorphisms. Furthermore, different types of markers can be sequenced in a single run, enabling the emergence of DIP-STRs, SNP-STR haplotypes, and microhaplotypes, which can be very useful in mixture deconvolution cases. In addition, the multiplex analysis of different single nucleotide polymorphisms can provide valuable information about identity, biogeographic ancestry, paternity, or phenotype. DNA methylation patterns, mitochondrial DNA, mRNA, and microRNA profiling can also be analyzed for different purposes, such as age inference, maternal lineage analysis, body-fluid identification, and monozygotic twin discrimination. MPS technology also empowers the study of metagenomics, which analyzes genetic material from a microbial community to obtain information about individual identification, post-mortem interval estimation, geolocation inference, and substrate analysis. This review aims to discuss the main applications of MPS in forensic genetics.
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