This project sought to investigate if neurodegenerative disease can be revealed using a forensic DNA typing assay using next-generation sequencing (NGS).
The forensic markers utilized for the identification of individuals were, in part, chosen because they are within noncoding regions of the genome. These noncoding regions were designed to be free of any additional information relating to an individual such as phenotypic and medical information.
However, recent research has indicated that forensic STR markers, previously thought of as “junk” DNA, could potentially reveal private medical information.
The goal of this project was to investigate samples from individuals suffering from neurodegenerative disease acquired from Coriell Institute using the ForenSeqTM Signature Prep Kit to examine the possible association of the diseases to forensically relevant markers (e.g., STRs and SNPs). This study also aims to evaluate possible sex linkage, SNP linkage, how neurodegenerative samples compare to unaffected, “healthy” samples, and evaluate traditional capillary electrophoresis versus the NGS methodology.
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