Development and validation of a pipeline for a clinical Next-Generation Sequencing (NGS) test for detection of a rare genetic sterol disorder influencing low-density lipoprotein cholesterol (LDL-C) concentrations

Next-generation sequencing (NGS) panels are gaining popularity thanks to the high-throughput capability of sequencing technology and low cost per sample. In this study, we aim to validate the performance of a NGS panel for detection of a rare genetic sterol disorder, and to assess the utility of a prediction model to identify a combination of single-nucleotide polymorphisms associated with lowering effect of plant sterols in lowdensity lipoproteins cholesterol (LDL-C) concentrations in individuals with a rare sterol disorder. We anticipate that the results of this pilot project will provide an insight related to the utility of a NGS-based to improve the diagnostic and therapy for a patient with this genetic disorder.

Faculty Supervisor:

Semone Myrie


Itzel Vazquez-Vidal


Interra Biosciences


Food science



University of Manitoba



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