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                            Funding & Awards
 Improving the prediction of human quantitative pigmentation traits such as eye, hair and skin color using a worldwide representation panel of US and European individuals
Award Information
Awardee
              Trustees of Indiana University
Award #
              2014-DN-BX-K031
Funding Category
              Competitive
Location
                    Indianapolis, IN
Awardee County
              Marion
Congressional District
              7
Status
              Closed
Funding First Awarded
              2014
Total funding (to date)
              $1,123,404
Original Solicitation
              NIJ FY 14 Research and Development in Forensic Science for Criminal Justice Purposes
Description of original award (Fiscal Year 2014, $1,123,404)
As submitted by the proposer: Forensic DNA Phenotyping or 'DNA intelligence' tools can significantly aid police investigations towards finding unknown individuals, by providing physical appearance information on unknown suspects, perpetrators and missing persons from biological samples. This is especially useful in cases where conventional DNA profiling (STR typing) remains non-informative and an investigation stalls. Until now, categorical eye and hair color were the only traits that could be predicted from DNA with adequate accuracy, using the HIrisPlex system as an example. However, certain categories such as green or intermediate eye color, individuals with an age-dependent hair colour change such as blond to brown/black, or admixed individuals, could not be predicted to the same levels of accuracy required for optimal physical appearance prediction from DNA. To circumvent these predictive issues, it is essential to move away from categorical (groups such as blue or brown) towards quantitative Genome Wide Association Studies (GWAS) to generate enough information for a more individualized prediction outcome from DNA. When an outcome of individualized prediction is successful, this could change how standard DNA profiling is performed on difficult (no hit on the database) casework scenarios within the United States and worldwide. The first aim of this study is to carry out new quantitative GWAS searches on 2000 individuals from three countries that have been enriched with the problem areas mentioned above and that have affected the categorical prediction of eye, hair and skin colour to date. This 2000 set of Irish, Greek and US individuals contain a well represented spectrum of variable pigmentation for all three quantitative traits eye, hair and skin colour. The second aim of this study is to generate a new phenotype-genotype database and prediction model from an additional 3000 individuals from the same three countries that is more representative of a worldwide population set than has previously been used for modeling parameters in the prediction of pigmentation traits. A collaboration that involves several populations ensures a broad representation of the common and unique alleles found associated and predictive for these quantitative traits, irrelevant of ancestry. The third aim of this study is to create a computerised prediction system that is capable of producing a photo print out of quantitative colour for eye, hair and skin colour prediction from DNA. This eliminates any interpretive issues that were previously associated with categorical pigmentation prediction and brings individualized physical appearance prediction to a new and exciting level in investigative forensic biology. ca/ncf



  
Grant-Funded Publications
        
                      GWAs Identify DNA Variants Influencing Eyebrow Thickness Variation in Europeans and Across Continental Populations
                  Exploring regional aspects of 3D facial variation within European individuals
                  Sequence-based allelic variations and frequencies for 22 autosomal STR loci in the Lebanese population
                  Matching 3D Facial Shape to Demographic Properties by Geometric Metric Learning: A Part-Based Approach
                  3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies
                  Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations
                  Evaluation of supervised machine-learning methods for predicting appearance traits from DNA
                  Fluctuating Asymmetry and Sexual Dimorphism in Human Facial Morphology: A Multi-Variate Study
                  Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism
                  The impact of correlations between pigmentation phenotypes and underlying genotypes on genetic prediction of pigmentation traits
                  The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation
                  A Multivariate Approach to Determine the Dimensionality of Human Facial Asymmetry
                  HIrisPlex-S system for eye, hair, and skin color prediction from DNA: Massively parallel sequencing solutions for two common forensically used platforms
                  Developing a Global Genotype Database to Predict Eye, Hair, and Skin Color From DNA
                  Ancient Genomes Indicate Population Replacement in Early Neolithic Britain
                  Genome-Wide Association Studies Identify Multiple Genetic Loci Influencing Eyebrow Color Variation in Europeans
                  Odyssey: a Semi-Automated Pipeline for Phasing, Imputation, and Analysis of Genome-Wide Genetic Data
                  Towards Broadening Forensic DNA Phenotyping Beyond Pigmentation: Improving the Prediction of Head Hair Shape From DNA
                  Investigating the impact of age-depended hair colour darkening during childhood on DNA-based hair colour prediction with the HIrisPlex system
                  Improving the Prediction of Human Quantitative Pigmentation Traits such as Eye, Hair and Skin Color using a Worldwide Representation Panel of US and European Individuals
                  The HIrisPlex-S SystemFfor Eye, Hair and Skin color prediction from DNA: Introduction and Forensic Developmental Validation
                  Meta-Analysis of Genome-wide Association Studies Identifies 8 Novel Loci Involved in Shape Variation of Human Head Hair
                  Global Skin Color Prediction From DNA
                  Likelihood Ratio and Posterior Odds in Forensic Genetics: Two Sides of the Same Coin
                  Novel Quantitative Pigmentation Phenotyping Enhances Genetic Association, Epistasis, and Prediction of Human Eye Colour
                  Fighting Crime With Science
                                                                      NIJ Journal,

  
Date Created: September 15, 2014
    
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