Clinical utility evaluation of a NGS based assay for the detection of genetic modifiers in families with reduced penetrance or uncertain copy number variants

There is increasing evidence that multiple genetic variants within a patient can compound their effects, resulting in a more severe clinical phenotype in comparison with the clinical manifestations in individuals with single genetic variation. In this study, we aim to examine the clinical utility of a massively parallel sequencing technique to identify clinically relevant secondary variants in patients with neurodevelopmental disorders by examining over 700 neurodevelopment disorder-associated genes in the patient and his/her parent with the primary genetic variation.

Faculty Supervisor:

Elizabeth McCready

Student:

Partner:

Sysmex Canada Inc

Discipline:

Life Sciences

Sector:

Professional, scientific and technical services

University:

McMaster University

Program:

Accelerate

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