Publications

These publications are examples of research made possible with data from CanPath and its regional cohorts.

2023

From genetic association to forensic prediction: Computational methods and tools for identifying phenotypically informative single nucleotide polymorphisms

Authors: Cristina L. Abbatangelo, Frida Lona Durazo, Frank R. Wendt, Esteban J. Parra, Nicole M.M. Novroski

The researchers assessed how pigmentation genetics can enhance forensic DNA phenotyping (FDP) for predicting externally visible characteristics (EVCs) such as hair, eye, and skin color. Using a genome-wide association study (GWAS) approach, they analyzed single nucleotide polymorphisms (SNPs) associated with pigmentation traits in data from CARTaGENE, Alberta’s Tomorrow Project, Ontario Health Study, BC Generations Project, and Atlantic PATH. Specifically, they examined genetic variants related to eye color in individuals with a blue eye color background (rs12913832:GG genotype). The study demonstrated how GWAS data, combined with post-genotyping analyses and functional annotation, can provide insights into pigmentation-associated loci. The findings contribute to refining FDP accuracy and may serve as a reference for future genomic investigations of EVCs in forensic settings.

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