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| Title |
Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage
|
|---|---|
| Published in |
Forensic Science International: Genetics, December 2013
|
| DOI | 10.1016/j.fsigen.2013.12.006 |
| Pubmed ID | |
| Authors |
Susan Walsh, Lakshmi Chaitanya, Lindy Clarisse, Laura Wirken, Jolanta Draus-Barini, Leda Kovatsi, Hitoshi Maeda, Takaki Ishikawa, Titia Sijen, Peter de Knijff, Wojciech Branicki, Fan Liu, Manfred Kayser |
| 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. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 311 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | <1% |
| Portugal | 1 | <1% |
| Hungary | 1 | <1% |
| Spain | 1 | <1% |
| Germany | 1 | <1% |
| Unknown | 305 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 53 | 17% |
| Student > Ph. D. Student | 49 | 16% |
| Student > Master | 46 | 15% |
| Researcher | 33 | 11% |
| Student > Postgraduate | 17 | 5% |
| Other | 51 | 16% |
| Unknown | 62 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 117 | 38% |
| Agricultural and Biological Sciences | 61 | 20% |
| Medicine and Dentistry | 9 | 3% |
| Social Sciences | 7 | 2% |
| Arts and Humanities | 7 | 2% |
| Other | 26 | 8% |
| Unknown | 84 | 27% |
Attention Score in Context
This research output has an Altmetric Attention Score of 20. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 April 2021.
All research outputs
#1,852,497
of 25,371,288 outputs
Outputs from Forensic Science International: Genetics
#87
of 1,342 outputs
Outputs of similar age
#20,510
of 320,102 outputs
Outputs of similar age from Forensic Science International: Genetics
#1
of 17 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,342 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one has done particularly well, scoring higher than 93% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 320,102 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 93% of its contemporaries.
We're also able to compare this research output to 17 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 94% of its contemporaries.