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Cited by 240Forensic and Genetic ResearchGenetic diversity and population structureForensic Entomology and Diptera Studies

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Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage

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Walsh, Susan, Chaitanya, Lakshmi, Clarisse, Lindy, Wirken, Laura, Draus-Barini, Jolanta, Kovatsi, Leda, Maeda, Hitoshi, Ishikawa, Takaki, Sijen, Titia, de Knijff, Peter, Branicki, Wojciech, Liu, Fan, Kayser, Manfred·2014·Forensic Science International: Genetics
DOI 10.1016/j.fsigen.2013.12.006
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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 d…

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Metadata

Authors
Walsh, S., Chaitanya, L., Clarisse, L., Wirken, L., Draus-Barini, J., Kovatsi, L., Maeda, H., Ishikawa, T., Sijen, T., de Knijff, P., Branicki, W., Liu, F., & Kayser, M.
Affiliations
  • Erasmus MC (NL)
  • Netherlands Forensic Institute (NL)
  • Leiden University Medical Center (NL)
  • Aristotle University of Thessaloniki (GR)
  • Osaka City University (JP)
  • Jagiellonian University (PL)
Corresponding author
Kayser, Manfred
ORCID
Venue
Forensic Science International: Genetics
Publisher
Elsevier BV
Published
2014-03
Volume
9
Pages
150-161
ISSN
1872-4973 (ISSN-L)
DOI
10.1016/j.fsigen.2013.12.006
OpenAlex
W2014796310
Cited by
240
References
44
Citations by year
2026: 24 · 2025: 23 · 2024: 19 · 2023: 31 · 2022: 22 · 2021: 23 · 2020: 18 · 2019: 23 · 2018: 19 · 2017: 19 · 2016: 10 · 2015: 7 · 2014: 2
FWCI
8.31
Type
journal article
Language
en
Open access
Licence
Locations
  • Forensic Science International Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • Jagiellonian University Repository (Jagiellonian University) (submittedVersion, cc-by-nc-nd)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
  • RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • Leiden Repository (Leiden University) (submittedVersion)
Funders
  • Netherlands Forensic Institute (NFI)
  • Erasmus MC University Medical Center Rotterdam
  • Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NWO)
  • European Union Seventh Framework Programme (285487)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
  • Life Sciences › Agricultural and Biological Sciences › Insect Science › Forensic Entomology and Diptera Studies
Keywords
forensic DNA phenotyping, trace DNA, degraded DNA, ancient DNA, human remains, missing persons, genotype-phenotype database, forensic anthropology
MeSH terms
Alleles, Blood Chemical Analysis, DNA, Eye Color, Genotype, Hair, Hair Color, Heterozygote, Humans, Saliva, Semen, Polymorphism, Single Nucleotide, Forensic Genetics

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