Applications of massively parallel sequencing in forensic genetics
Abstract Massively 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...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Genética
2022-09-01
|
| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000400105&tlng=en |
| _version_ | 1798035791447851008 |
|---|---|
| author | Thássia Mayra Telles Carratto Vitor Matheus Soares Moraes Tamara Soledad Frontanilla Recalde Maria Luiza Guimarães de Oliveira Celso Teixeira Mendes-Junior |
| author_facet | Thássia Mayra Telles Carratto Vitor Matheus Soares Moraes Tamara Soledad Frontanilla Recalde Maria Luiza Guimarães de Oliveira Celso Teixeira Mendes-Junior |
| author_sort | Thássia Mayra Telles Carratto |
| collection | DOAJ |
| description | Abstract Massively 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. |
| first_indexed | 2024-04-11T21:03:10Z |
| format | Article |
| id | doaj.art-a0f79d630a9d45999a4c0897a2b6dbf9 |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-04-11T21:03:10Z |
| publishDate | 2022-09-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-a0f79d630a9d45999a4c0897a2b6dbf92022-12-22T04:03:26ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852022-09-01453 suppl 110.1590/1678-4685-gmb-2022-0077Applications of massively parallel sequencing in forensic geneticsThássia Mayra Telles CarrattoVitor Matheus Soares MoraesTamara Soledad Frontanilla RecaldeMaria Luiza Guimarães de OliveiraCelso Teixeira Mendes-Juniorhttps://orcid.org/0000-0002-7337-1203Abstract Massively 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000400105&tlng=enNext-Generation Sequencing (NGS)DNA analysisRNA analysismethylationgenetic polymorphisms |
| spellingShingle | Thássia Mayra Telles Carratto Vitor Matheus Soares Moraes Tamara Soledad Frontanilla Recalde Maria Luiza Guimarães de Oliveira Celso Teixeira Mendes-Junior Applications of massively parallel sequencing in forensic genetics Genetics and Molecular Biology Next-Generation Sequencing (NGS) DNA analysis RNA analysis methylation genetic polymorphisms |
| title | Applications of massively parallel sequencing in forensic genetics |
| title_full | Applications of massively parallel sequencing in forensic genetics |
| title_fullStr | Applications of massively parallel sequencing in forensic genetics |
| title_full_unstemmed | Applications of massively parallel sequencing in forensic genetics |
| title_short | Applications of massively parallel sequencing in forensic genetics |
| title_sort | applications of massively parallel sequencing in forensic genetics |
| topic | Next-Generation Sequencing (NGS) DNA analysis RNA analysis methylation genetic polymorphisms |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000400105&tlng=en |
| work_keys_str_mv | AT thassiamayratellescarratto applicationsofmassivelyparallelsequencinginforensicgenetics AT vitormatheussoaresmoraes applicationsofmassivelyparallelsequencinginforensicgenetics AT tamarasoledadfrontanillarecalde applicationsofmassivelyparallelsequencinginforensicgenetics AT marialuizaguimaraesdeoliveira applicationsofmassivelyparallelsequencinginforensicgenetics AT celsoteixeiramendesjunior applicationsofmassivelyparallelsequencinginforensicgenetics |