scholarly journals Evaluation of the Ion AmpliSeq™ PhenoTrivium Panel: MPS-Based Assay for Ancestry and Phenotype Predictions Challenged by Casework Samples

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1398
Author(s):  
Marta Diepenbroek ◽  
Birgit Bayer ◽  
Kristina Schwender ◽  
Roberta Schiller ◽  
Jessica Lim ◽  
...  

As the field of forensic DNA analysis has started to transition from genetics to genomics, new methods to aid in crime scene investigations have arisen. The development of informative single nucleotide polymorphism (SNP) markers has led the forensic community to question if DNA can be a reliable “eye-witness” and whether the data it provides can shed light on unknown perpetrators. We have developed an assay called the Ion AmpliSeq™ PhenoTrivium Panel, which combines three groups of markers: 41 phenotype- and 163 ancestry-informative autosomal SNPs together with 120 lineage-specific Y-SNPs. Here, we report the results of testing the assay’s sensitivity and the predictions obtained for known reference samples. Moreover, we present the outcome of a blind study performed on real casework samples in order to understand the value and reliability of the information that would be provided to police investigators. Furthermore, we evaluated the accuracy of admixture prediction in Converge™ Software. The results show the panel to be a robust and sensitive assay which can be used to analyze casework samples. We conclude that the combination of the obtained predictions of phenotype, biogeographical ancestry, and male lineage can serve as a potential lead in challenging police investigations such as cold cases or cases with no suspect.

2020 ◽  
pp. 128-146
Author(s):  
Antti Sajantila ◽  
Bruce Budowle

Forensic DNA analysis has been used predominantly for comparison, either directly or indirectly, of crime scene evidence and known reference samples from human suspects in a variety of situations, such as analyzing a biospecimen(s) from a crime scene, identifying unidentified cadavers (or other human remains) in a postmortem setting, or kinship testing. The field of forensic genetics has recently expanded from its original focus on human samples to more holistic methods of characterization of the source(s) of biological samples. This progression has been motivated in part by technological advancements, from targeted PCR-based methods to higher throughput DNA sequencing methods, with concomitant bioinformatics to support the increased data output. One of the new areas in forensic genetics facilitating the expansion of forensic genomics is the field of microbial forensics. Microbial forensics involves bioterrorism, biocrime, human identification, determining postmortem interval, human geolocation, and body fluid identification.


Author(s):  
Penelope R. Haddrill

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.


2015 ◽  
Vol 15 ◽  
pp. 98-104 ◽  
Author(s):  
Sergey Borovko ◽  
Alena Shyla ◽  
Victorya Korban ◽  
Alexandra Borovko

2018 ◽  
Vol 59 (1) ◽  
pp. 9-16 ◽  
Author(s):  
Samuele Manzoni ◽  
Andrea Ossoli ◽  
Venusia Cortellini ◽  
Andrea Verzeletti

Forensic examination of human remains is a complex process that relies on the contribution of multidisciplinary forensic medicine specialties. Here we present a complex forensic case regarding a double murder whose victims were found almost completely skeletonized. Post-mortem investigations allowed us to define the biological profile of the two bodies (ancestry, sex, age and stature), to discover their identity through forensic DNA analysis, and to detect peri-mortem injuries caused by firearms and stabbing weapons. Three men were recognized as involved in the crime and two of them were condemned to life imprisonment for homicide. The judges accepted the reconstruction of the crime promoted by the Prosecutor (double firearm murder).


BioTechniques ◽  
2009 ◽  
Vol 47 (5) ◽  
pp. 951-958 ◽  
Author(s):  
Johannes Hedman ◽  
Anders Nordgaard ◽  
Birgitta Rasmusson ◽  
Ricky Ansell ◽  
Peter Rådström

2020 ◽  
Vol 77 (2) ◽  
pp. 93-99
Author(s):  
Р. Л. Степанюк ◽  
С. І. Перлін

The authors of the article have studied the problems and perspectives of the formation of specific branch of forensic technology, which is devoted to DNA analysis in order to solve the tasks arising in criminal proceeding. Particular attention has been paid to the lack of a corresponding component in the domestic system of forensic technology, unlike the forensic science of foreign countries. The necessity of development of forensic DNA analysis as an independent branch of forensic technology has been argued. It is confirmed by the following main arguments: the methodology of this field of research is based on the theory of forensic identification; its objects are traces of human and other living organisms; DNA analysis technologies are developed using the achievements of different sciences and adapted to solve problems of crime detection and investigation; they are aimed to ensuring the activities of law enforcement agencies in counteracting crime; the scope of DNA analysis application in crime combating should not be limited to forensic activities; legislative regulation of collecting and using personal genetic data is essential; DNA analysis technologies in terms of practical significance and fundamental scientific basis exceed all other branches of forensic technology. The authors have offered to define forensic DNA analysis as the branch of forensic technology that studies individual genetic characteristics of living organisms contained in their DNA, in order to identify them and solve diagnostic tasks in the detection and investigation of criminal offenses. Its structure has been determined. The authors have provided perspective development directions of forensic DNA analysis: ensuring the appropriate state of legislative regulation of relations in the field of selection and use of personal genetic information; implementation of effective means and methods of detection and removal of biological traces and samples; improvement of methods of forensic DNA testing; formation of recommendations concerning the peculiarities of using DNA analysis results for proving; development of the latest technologies of forensic DNA analysis.


Biosensors ◽  
2016 ◽  
Vol 6 (3) ◽  
pp. 41 ◽  
Author(s):  
Brigitte Bruijns ◽  
Arian van Asten ◽  
Roald Tiggelaar ◽  
Han Gardeniers

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