Date of Graduation
Eberly College of Arts and Sciences
Forensic and Investigative Science
Currently the largest limitation with DNA evidence is that a comparison to a known source sample is required for any interpretation with the current methods. Simply put, if an unknown sample from a crime scene is collected and results in a profile, but there is no suspect or match from CODIS to compare it to, the profile is essentially useless and no information can be gained from it. Research has been performed within the area of forensic DNA phenotyping as a potential tool to aid in taking steps forward to use genotypic information as an investigative tool. Populations studies have lead to the discovery of information used to develop an assay, HIrisPlex, for the purpose of understanding and predicting externally visible characteristics (EVCs) such as eye and hair color from DNA. Development of these tools for forensic purposes could be utilized to begin establishing a physical description of a suspect to help further aid in an investigation. The current limitation with the HIrisPlex assay is in eye color based prediction related to the lack of understanding of the genetic basis of non-brown or non-blue eye colors which they refer to as intermediate eye colors. The goal of this study was to take the first step in using a higher level of diverse phenotypes present within an American population to evaluate the accuracy of the DNA variants selected in relation to the prediction of eye color phenotypes for the HIrisPlex assays.
Combs, Emma Leigh, "American Population Study of Pigmentation Based Genotype Interpretation for Phenotypic Determination of Hair and Eye Color using HIrisPlex" (2020). Graduate Theses, Dissertations, and Problem Reports. 7738.