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Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage
- Source :
- Forensic Science International: Genetics, 9, 150-161. Elsevier Ireland Ltd, Forensic Science International: Genetics, 9, 150-161
- Publication Year :
- 2014
- Publisher :
- Elsevier BV, 2014.
-
Abstract
- Forensic DNA Phenotyping or 'DNA intelligence' tools are expected to aid police investigations and find unknown individuals by providing information on externally visible characteristics of unknown suspects, perpetrators and missing persons from biological samples. This is especially useful in cases where conventional DNA profiling or other means remain non-informative. Recently, we introduced the HIrisPlex system, capable of predicting both eye and hair colour from DNA. In the present developmental validation study, we demonstrate that the HIrisPlex assay performs in full agreement with the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines providing an essential prerequisite for future HIrisPlex applications to forensic casework. The HIrisPlex assay produces complete profiles down to only 63 pg of DNA. Species testing revealed human specificity for a complete HIrisPlex profile, while only non-human primates showed the closest full profile at 20 out of the 24 DNA markers, in all animals tested. Rigorous testing of simulated forensic casework samples such as blood, semen, saliva stains, hairs with roots as well as extremely low quantity touch (trace) DNA samples, produced complete profiles in 88% of cases. Concordance testing performed between five independent forensic laboratories displayed consistent reproducible results on varying types of DNA samples. Due to its design, the assay caters for degraded samples, underlined here by results from artificially degraded DNA and from simulated casework samples of degraded DNA. This aspect was also demonstrated previously on DNA samples from human remains up to several hundreds of years old. With this paper, we also introduce enhanced eye and hair colour prediction models based on enlarged underlying databases of HIrisPlex genotypes and eye/hair colour phenotypes (eye colour: N = 9188 and hair colour: N = 1601). Furthermore, we present an online web-based system for individual eye and hair colour prediction from full and partial HIrisPlex DNA profiles. By demonstrating that the HIrisPlex assay is fully compatible with the SWGDAM guidelines, we provide the first forensically validated DNA test system for parallel eye and hair colour prediction now available to forensic laboratories for immediate casework application, including missing person cases. Given the robustness and sensitivity described here and in previous work, the HIrisPlex system is also suitable for analysing old and ancient DNA in anthropological and evolutionary studies. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
- Subjects :
- Forensic Genetics
Heterozygote
Validation study
Genotype
SNP
Computational biology
Biology
FDP
Polymorphism, Single Nucleotide
Pathology and Forensic Medicine
03 medical and health sciences
Forensic dna
chemistry.chemical_compound
SWGDAM
0302 clinical medicine
Hair colour prediction
Semen
Genetics
developmental validation
Humans
030216 legal & forensic medicine
Hair Color
Saliva
Alleles
030304 developmental biology
0303 health sciences
Missing person
Eye colour prediction
Forensic DNA Phenotyping (FDP)
eye colour prediction
Eye Color
DNA
16. Peace & justice
Developmental validation
Ancient DNA
DNA profiling
chemistry
Forensic DNA Phenotyping
HIrisPlex
Degraded dna
DNA phenotyping
Blood Chemical Analysis
Forensic DNA Phenotyping, FDP
hair colour prediction
Hair
Subjects
Details
- ISSN :
- 18724973
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Forensic Science International: Genetics
- Accession number :
- edsair.doi.dedup.....f38ab8dcb5f365344c293eea5b8f60b6