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 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.

An ELOVL2-Based Epigenetic Clock for Forensic Age Prediction: A Systematic Review

“…It is important to point out that methylation profiles obtained with these different sequencing/typing methods provide largely comparable results [42]. On the other hand, MPS seems to be the most advantageous approach due to its capability of dealing with low quantity/degraded samples, which can be very common in forensic investigations [43]. Furthermore, MPS is already used in most forensic laboratories for DNA profiles with STR markers, but also for biogeographical ancestry information, mitochondrial DNA sequence analysis, and for forensic DNA phenotyping applications [44][45][46].…”

Open-Access Worldwide Population STR Database Constructed Using High-Coverage Massively Parallel Sequencing Data Obtained from the 1000 Genomes Project

“…Short-read next generation sequencing is slowly being introduced in forensic labs worldwide. Although such technology is still restricted and expensive, it has become more sensitive, requiring as little as 25 pg of extracted DNA, and is suitable to solve more complex cases, such as discrimination of twins (using STRs, WGS or mtDNA sequencing approaches) and deconvolution of highly unbalanced mixtures reviewed by [ 30 ]. Some criminal [ 31 , 32 , 33 ], kinship [ 34 ] and missing persons [ 35 ] casework already benefiting from this have been reported.…”

The Development and Characterisation of ssDNA Aptamers via a Modified Cell-SELEX Methodology for the Detection of Human Red Blood Cells

“…MPS was chosen for use within this study in order to obtain in-depth sequencing knowledge regarding the pools and to avoid the use of Sanger sequencing, which can be laborious [31]. Already being employed within forensic laboratories, MPS boasts the advantages of being able to simultaneously analyse large pools, as well as being a robust method that requires relatively simple sample preparation [32,33]. Rounds 6, 8 and 10 were chosen for high-throughput sequencing via this method.…”