HIrisPlex-S Eye, Hair and Skin Colour DNA Phenotyping Webtool

Welcome to the Department of Genetic Identification of Erasmus MC

With the advancement of DNA phenotyping as a tool in Forensic and Anthropological usage, we now provide an easy to use interactive website to predict eye, hair and skin colour from DNA using the IrisPlex, HIrisPlex and HIrisPlex-S systems.


This work is in collaboration with the Walsh laboratory of Indiana-University-Purdue-University-Indianapolis (IUPUI), USA.


Please see the manual for instructions. We hope you enjoy using this tool and find it a useful addition to your analyses. If you have any issues regarding this website, please contact us at dnaphenotyping ... at ... gmail ... com

The HIrisPlex-S System

GeneSNPAlleleNo. of Alleles
1MC1Rrs312262906A
2MC1Rrs11547464A
3MC1Rrs885479T
4MC1Rrs1805008T
5MC1Rrs1805005T
6MC1Rrs1805006A
7MC1Rrs1805007T
8TUBB3rs1805009C
9MC1Rrs201326893A
10MC1Rrs2228479A
11MC1Rrs1110400C
12SLC45A2rs28777C
13SLC45A2rs16891982C
14KITLGrs12821256G
15LOC105374875rs4959270A
16IRF4rs12203592T
17TYRrs1042602T
18OCA2rs1800407A
19SLC24A4rs2402130G
20HERC2rs12913832T
21PIGUrs2378249C
22LOC105370627rs12896399T
23TYRrs1393350T
24TYRP1rs683G
25ANKRD11rs3114908T
26OCA2rs1800414C
27BNC2rs10756819G
28HERC2rs2238289C
29SLC24A4rs17128291C
30HERC2rs6497292C
31HERC2rs1129038G
32HERC2rs1667394C
33TYRrs1126809A
34OCA2rs1470608A
35SLC24A5rs1426654G
36ASIPrs6119471C
37OCA2rs1545397T
38RALYrs6059655T
39OCA2rs12441727A
40MC1Rrs3212355A
41DEF8rs8051733C
 
Display Predicted Phenotype    Download Predicted Phenotype
 
Predicted phenotype

Instructions

If input allele is not present, put 0 into 'No. of alleles' box
If one is present, heterozygote, put 1 in the box
If the only allele present is the input allele, homozygote, put 2 in the box
If there is a missing SNP. please enter NA
Inputs missing HERC2 rs12913832 will not produce an eye colour prediction result.
Inputs missing all MC1R (11 SNPs) will not produce a hair colour prediction result.
Inputs missing HERC2-SLC45A2-IRF4 will not produce an eye or hair colour prediction result.

Number of Individuals in the Database
Eye colour prediction9466
Hair colour prediction1878
Hair shade prediction854
Skin colour prediction1423


Prediction Performance Metrics are based on the mean +/- standard deviation (sd) of 1000 Cross Validated tests of individuals within the Database (80% for training and 20% for testing). Important to note is that these measures are based upon the highest probability representing the final prediction, which is not the case in practice for hair and skin colour prediction as they recommended the use of prediction guides according to HIrisPlex and HIrisPlex-S publications.

This is to show the performance of the model only, the entire database is used to train the model for the prediction of new data.


Current Prediction Performance Metrics
AUC Sensitivity Specificity PPV NPV Balanced Accuracy
Blye Eye Color 0.939 +/- 0.005 0.928 +/- 0.008 0.866 +/- 0.012 0.903 +/- 0.009 0.899 +/- 0.011 0.897 +/- 0.007
Intermediate Eye Color 0.735 +/- 0.005 0.001 +/- 0.003 0.999 +/- 0.001 0.085 +/- 0.232* 0.912 +/- 0.006 0.500 +/- 0.001
Brown Eye Color 0.946 +/- 0.005 0.935 +/- 0.009 0.859 +/- 0.009 0.772 +/- 0.015 0.963 +/- 0.005 0.897 +/- 0.006
Blond Hair Color 0.800 +/- 0.020 0.665 +/- 0.039 0.767 +/- 0.023 0.629 +/- 0.037 0.794 +/- 0.025 0.716 +/- 0.022
Brown Hair Color 0.719 +/- 0.024 0.656 +/- 0.037 0.652 +/- 0.032 0.578 +/- 0.032 0.723 +/- 0.029 0.654 +/- 0.021
Red Hair Color 0.916 +/- 0.029 0.613 +/- 0.086 0.980 +/- 0.008 0.733 +/- 0.087 0.966 +/- 0.009 0.797 +/- 0.043
Black Hair Color 0.831 +/- 0.031 0.333 +/- 0.064 0.979 +/- 0.008 0.699 +/- 0.092 0.911 +/- 0.011 0.656 +/- 0.032
Very Pale Skin Color 0.744 +/- 0.050 0.078 +/- 0.057 0.991 +/- 0.006 0.401 +/- 0.270* 0.935 +/- 0.013 0.535 +/- 0.028
Pale Skin Color 0.719 +/- 0.025 0.697 +/- 0.040 0.628 +/- 0.037 0.599 +/- 0.032 0.723 +/- 0.029 0.662 +/- 0.025
Intermediate Skin Color 0.731 +/- 0.026 0.573 +/- 0.047 0.749 +/- 0.033 0.596 +/- 0.034 0.731 +/- 0.022 0.661 +/- 0.026
Dark Skin Color 0.875 +/- 0.084 0.295 +/- 0.156 0.980 +/- 0.009 0.338 +/- 0.168 0.975 +/- 0.008 0.637 +/- 0.077
Dark-to-Black Skin Color 0.958 +/- 0.036 0.810 +/- 0.097 0.987 +/- 0.008 0.806 +/- 0.103 0.988 +/- 0.006 0.899 +/- 0.049

* less than 1000 test runs were used to compute this metric due to lower numbers of this category within the database


file upload

example input file (header only, add your own data): hirisplexs.csv

The HIrisPlex System

GeneSNPAlleleNo. of Alleles
1MC1Rrs312262906A
2MC1Rrs11547464A
3MC1Rrs885479T
4MC1Rrs1805008T
5MC1Rrs1805005T
6MC1Rrs1805006A
7MC1Rrs1805007T
8TUBB3rs1805009C
9MC1Rrs201326893A
10MC1Rrs2228479A
11MC1Rrs1110400C
12SLC45A2rs28777C
13SLC45A2rs16891982C
14KITLGrs12821256G
15LOC105374875rs4959270A
16IRF4rs12203592T
17TYRrs1042602T
18OCA2rs1800407A
19SLC24A4rs2402130G
20HERC2rs12913832T
21PIGUrs2378249C
22LOC105370627rs12896399T
23TYRrs1393350T
24TYRP1rs683G
 
Display Predicted Phenotype    Download Predicted Phenotype
 
Predicted phenotype

Instructions

If input allele is not present, put 0 into 'No. of alleles' box
If one is present, heterozygote, put 1 in the box
If the only allele present is the input allele, homozygote, put 2 in the box
If there is a missing SNP. please enter NA
Inputs missing HERC2 rs12913832 will not produce an eye colour prediction result.
Inputs missing all MC1R (11 SNPs) will not produce a hair colour prediction result.
Inputs missing HERC2-SLC45A2-IRF4 will not produce an eye or hair colour prediction result.

file upload

example input file (header only, add your own data): hirisplex.csv

The IrisPlex System

GeneSNPAlleleNo. of Alleles
1HERC2rs12913832T
2OCA2rs1800407A
3LOC105370627rs12896399T
4SLC45A2rs16891982C
5TYRrs1393350T
6IRF4rs12203592T
 
Display Predicted Phenotype    Download Predicted Phenotype
 
Predicted phenotype

Instructions

If input allele is not present, put 0 into 'No. of alleles' box
If one is present, heterozygote, put 1 in the box
If the only allele present is the input allele, homozygote, put 2 in the box
If there is a missing SNP. please enter NA
Inputs missing HERC2 rs12913832 will not produce an eye colour prediction result

file upload

example input file (header only, add your own data): irisplex.csv

Notes

Please Note:
Partial profiles do not reflect the full prediction potential of all three prediction systems and should be used with caution. Also prediction values may differ from IrisPlex or HIrisPlex Excel prediction values previously published. This is due to an increase in database size for use in the underlying models for eye, hair and skin colour in this online tool.

References

Please cite all references when you use the HIrisPlex-S eye, hair and skin colour online prediction tool in your analyses.

L. Chaitanya, K. Breslin, S. Zuñiga, L. Wirken, E. Pospiech, M. Kukla-Bartoszek, T. Sijen, P. de Knijff, F. Liu, W. Branicki, M. Kayser, S. Walsh. The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation. Forensic Science International Genetics https://doi.org/10.1016/j.fsigen.2018.04.004

S. Walsh, L. Chaitanya, K. Breslin, C. Muralidharan, A. Bronikowska, E. Pospiech, J. Koller, L. Kovatsi, A. Wollstein, W. Branicki, F. Liu, M. Kayser, Global skin colour prediction from DNA. Human Genetics, 2017. 136(7): p. 847-863.

S. Walsh, L. Chaitanya, L. Clarisse, L. Wirken, J. Draus-Barini, L. Kovatsi, H. Maeda, T. Ishikawa, T. Sijen, P. de Knijff, W. Branicki, F. Liu, M. Kayser, Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage. Forensic Science International: Genetics. 2014 Mar;9:150-61.

Funding support

The initial research and development that led to this resource was supported in part by funding from the Netherlands Forensic Institute (NFI), the Erasmus MC University Medical Center Rotterdam, and by a grant from the Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NWO) within the framework of the Forensic Genomics Consortium Netherlands (FGCN). Development and maintenance of this web resource is supported by Erasmus MC University Medical Center Rotterdam.

The work of the Walsh laboratory is funded in part by the U.S. National Institute of Justice under grant number 2014-DN-BX-K031, the views presented here are for informational purposes only and do not constitute product approval or endorsement by the U.S. Department of Justice.

There where 10171 visits since the launch of this website April 2018
There where 492981793 phenotypes predicted since the launch of this website April 2018