Evolution of single‐nucleotide polymorphism use in forensic genetics

Abstract

Although short tandem repeats (STRs) are traditionally the marker of choice for traditional forensic DNA typing applications, single‐nucleotide polymorphisms (SNPs; pronounced “snips”) and microhaplotypes (MHs) are additional genetic marker classes than can be utilized for generating genetic profile information that may result in new investigative leads and human identity determination(s). For example, when working with DNA samples of poor quality and/or low quantity, a SNP‐based approach could be invaluable in providing investigators information about a person's ancestry and physical characteristics and could provide a viable human identification profile for comparison. In this primer, we briefly discuss the various classes and applications of SNPs and MHs to demonstrate the tremendous amount of forensically relevant information that these markers can provide forensic investigations. This article is categorized under: Forensic Biology > Interpretation of Biological Evidence Forensic Biology > Ancestry Determination using DNA Methods Forensic Biology > Phenotypic Markers

Recombulator-X: a fast and user-friendly tool for estimating X chromosome recombination rates in forensic genetics

“…The growing use of next-generation sequencing technologies in the forensic fields, with the possibility of combining thousands of markers together, requires the development of new biostatistical frameworks scalable to a higher number of genetic markers [9]. Moreover, many commercially available NGS-based kits allow to combine STRs and other non-traditional markers, such as SNPs or INDELs [12][13][14][15][16][17]. In particular, SNPs have been increasingly appealing thanks to their technical features and informational power: their smaller amplicon size is crucial with samples of low quantity and poor quality (this is relevant since the majority of forensic analyses involves degraded DNA) [64] and they provide insight for predicting human appearance and the biogeographical origin of unknown sample donors or deceased/missing persons [65,66], thus ultimately resulting in new investigative leads.…”

“…Over the last decade, use of sequencing-based techniques has become increasingly widespread in forensic genetics [8][9][10][11]. This brought back interest in other types of markers, especially SNPs, which can be analysed either in combination with STRs or alone [12][13][14][15][16][17]. Whilst more SNPs are necessary to reach the discrimination capacity of STRs, the possibility of genotyping large number of markers simultaneously from low quantities of input DNA or from degraded material has opened the floodgates to new forensic applications also based on SNPs, such as ancestry inference, DNA phenotyping and investigative genetic genealogy, the latter being specifically designed on dense SNP data [18][19][20][21][22][23][24].…”

PCR in Forensic Science: A Critical Review

“…In recent years, SNP analysis has emerged as a major player in the world of forensic genetics due to the broad range of information it can provide from small amplicons [129][130][131]. This is because the single nucleotide variations that are targeted by SNP analysis are highly abundant in the human genome as a result of mutagenesis [129].…”

“…In recent years, SNP analysis has emerged as a major player in the world of forensic genetics due to the broad range of information it can provide from small amplicons [129][130][131]. This is because the single nucleotide variations that are targeted by SNP analysis are highly abundant in the human genome as a result of mutagenesis [129]. As the number of SNPs identified to be highly variable in the human genome continues to increase, so too does the power of discrimination between genomes when it is applied to forensic investigation.…”

Genomic screening methodology not requiring barcoding: Single nucleotide polymorphism-based, mixed-cell screening (SMICS)

“…To address this limitation, we developed a PRISM variant called “Single Nucleotide Polymorphism-based Mixed Cell Screen (SMICS)” as a platform to screen pooled cell-lines without barcoding. The Single Nucleotide Polymorphisms (SNPs) are capable to uniquely identify individuals [ 11 - 13 ] and have been used in forensic analyses [ 14 , 15 ]. Our SMICS platform took advantage of the unique endogenous SNP pattern in each cell-line and led a method to determine the proportions of each cell-line in a mixture using next-generation sequencing (NGS) and statistical algorithm ( Fig.…”