Abstract
The analysis of DNA from biological evidence recovered in the course of criminal investigations can provide very powerful evidence when a recovered profile matches one found on a DNA database or generated from a suspect. However, when no profile match is found, when the amount of DNA in a sample is too low, or the DNA too degraded to be analysed, traditional STR profiling may be of limited value. The rapidly expanding field of forensic genetics has introduced various novel methodologies that enable the analysis of challenging forensic samples, and that can generate intelligence about the donor of a biological sample. This article reviews some of the most important recent advances in the field, including the application of massively parallel sequencing to the analysis of STRs and other marker types, advancements in DNA mixture interpretation, particularly the use of probabilistic genotyping methods, the profiling of different RNA types for the identification of body fluids, the interrogation of SNP markers for predicting forensically relevant phenotypes, epigenetics and the analysis of DNA methylation to determine tissue type and estimate age, and the emerging field of forensic genetic genealogy. A key challenge will be for researchers to consider carefully how these innovations can be implemented into forensic practice to ensure their potential benefits are maximised.
Highlights
Since its first use in a criminal case in 1987, the analysis of DNA from biological evidence has revolutionised forensic investigations
• The analysis of DNA from biological material recovered in the course of a criminal investigation can provide very powerful evidence
there is no match between the recovered profile
Summary
Since its first use in a criminal case in 1987, the analysis of DNA from biological evidence has revolutionised forensic investigations. Kits have been developed to target part or all of the mitochondrial genome [17–19] This ability to target large numbers of different marker types into a single assay is one of the key advantages of MPS methods, increasing discrimination power and of particular benefit when analysing the often-limited DNA in forensic samples [20]. Searching of these online platforms using profiles generated from samples recovered in criminal investigations may identify relatives of the potential perpetrator, and further genealogical research may lead to the identification of a suspect whose DNA can be recovered and compared with crime samples [140] The size of these public databases of genetic information are such that one study estimated 60% of searches were likely to find a relative at a distance of third cousin or closer, and 15% second cousin or closer, indicating that a database covering only 2% of a target population would include a third cousin match for 99% of the population ([141], see [142]). With the recent acquisition of GEDmatch by forensic genomics company Verogen (https://verogen.com/gedmatch-partners-with-genomics-firm/), along with the launch of a kit designed for genealogical applications (https://verogen.com/products/forenseq-kintelligencekit/), it seems likely that these methods will become commonplace in investigations
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