Forensic DNA Phenotyping: Predicting human appearance from crime scene material for investigative purposes

Kayser, Manfred

doi:10.1016/j.fsigen.2015.02.003

Cited by 332 publications

(314 citation statements)

References 97 publications

(229 reference statements)

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“…The assay conversion rate for MPS systems is important to assess with regard to the much larger PCR multiplexing levels possible with this technology. It is also necessary to gauge how easily novel SNP discoveries for such purposes as forensic phenotyping [19] or specialized ancestry analyses [20,21] can be incorporated into single multiplexes for MPS analysis. Furthermore, there are initial indications that well optimized SNaPshot-based forensic SNP PCR multiplexes can be easily combined and ported directly to MPS with little or no modification [12].…”

Section: Introductionmentioning

confidence: 99%

Inter-laboratory evaluation of the EUROFORGEN Global ancestry-informative SNP panel by massively parallel sequencing using the Ion PGM™

Eduardoff

Gross

Santos

et al. 2016

Forensic Science International: Genetics

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Section: Introductionmentioning

confidence: 99%

Inter-laboratory evaluation of the EUROFORGEN Global ancestry-informative SNP panel by massively parallel sequencing using the Ion PGM™

Eduardoff

Gross

Santos

et al. 2016

Forensic Science International: Genetics

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“…Therefore, the ability to predict the early-onset or normal MPB status using DNA variants may have important implications for treatment strategies. Furthermore, owing to its widespread prevalence and the fact that most criminals are men, MPB in principle could help identify unknown perpetrators via the concept of forensic DNA phenotyping, 6,7 especially in light of the current progress in predicting chronological age from DNA data. 8,9 However, so far there is no established genetic model for predicting MPB from genetic data providing motivation for the present study.…”

Section: Introductionmentioning

confidence: 99%

Prediction of male-pattern baldness from genotypes

et al. 2015

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The global demand for products that effectively prevent the development of male-pattern baldness (MPB) has drastically increased. However, there is currently no established genetic model for the estimation of MPB risk. We conducted a prediction analysis using single-nucleotide polymorphisms (SNPs) identified from previous GWASs of MPB in a total of 2725 German and Dutch males. A logistic regression model considering the genotypes of 25 SNPs from 12 genomic loci demonstrates that early-onset MPB risk is predictable at an accuracy level of 0.74 when 14 SNPs were included in the model, and measured using the area under the receiver-operating characteristic curves (AUC). Considering age as an additional predictor, the model can predict normal MPB status in middle-aged and elderly individuals at a slightly lower accuracy (AUC 0.69-0.71) when 6-11 SNPs were used. A variance partitioning analysis suggests that 55.8% of early-onset MPB genetic liability can be explained by common autosomal SNPs and 23.3% by X-chromosome SNPs. For normal MPB status in elderly individuals, the proportion of explainable variance is lower (42.4% for autosomal and 9.8% for X-chromosome SNPs). The gap between GWAS findings and the variance partitioning results could be explained by a large body of common DNA variants with small effects that will likely be identified in GWAS of increased sample sizes. Although the accuracy obtained here has not reached a clinically desired level, our model was highly informative for up to 19% of Europeans, thus may assist decision making on early MPB intervention actions and in forensic investigations.

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“…Numerous new markers are being implemented in advancing the desired goals of investigative authorities, specifically, how forensic genetics can help to improve the collection of the most relevant information in terms of individualization and identification from the least amount of biological samples. Due to their abundant distribution in both the nuclear and mitochondrial genome, SNPs increasingly can provide the genetic background for the prediction of physical characteristics [200,201], or geographical origin [202,203], and can also provide investigative tools to trace unknown individuals [204,205] even from historical remains [206][207][208]. Determination of ancestry [209,210] and externally visible characteristics, such as skin, eye and hair pigmentation [211,212], morphology [213,214], or age [215,216], is an ongoing research field of forensics, requiring both forensic validation of analytical platforms and computation data.…”

Section: Markers For Supplemental Informationmentioning

confidence: 99%

Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

Pádár¹,

Zenke²,

Kozma³

2018

Post Mortem Examination and Autopsy - Current Issues From Death to Laboratory Analysis

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The importance of biological traces and evidences related to a criminal matter has been recognized for a long time. The examination of the expression of genetic polymorphism has been an integral part of the multidisciplinary field of medico-legal autopsy for over a century. Since the initial application of blood group antigens for personalization of a putative perpetrator in a murder case, the discipline of forensic genetics has evolved as a standard of forensic sciences. The real breakthrough, the application of molecular tools and processes for the in-vitro replication of genetic substances, has increasingly allowed the exploitation of advances of molecular genetics for both forensic and criminal investigations. Although there are certainly many more applications and scientific fields in the medico-legal arena, the relatively fast progress of genetics, which has accelerated recently with state-of-art technologies, can provide ever more relevant information in relation to a corpse or the cause and manner that resulted in the corpse for autopsy. This topic concerns the currently accepted forensic DNA technology, and the last section reviews commonly used markers for nuclear and mitochondrial DNA analysis as well as ongoing research. This review also focuses on the increasingly important non-human sources of DNA, and shortly covers the main aspects of animal forensic DNA examination.

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Forensic DNA Phenotyping: Predicting human appearance from crime scene material for investigative purposes

Cited by 332 publications

References 97 publications

Inter-laboratory evaluation of the EUROFORGEN Global ancestry-informative SNP panel by massively parallel sequencing using the Ion PGM™

Inter-laboratory evaluation of the EUROFORGEN Global ancestry-informative SNP panel by massively parallel sequencing using the Ion PGM™

Prediction of male-pattern baldness from genotypes

Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

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