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Curating structural variants in epilepsy

Description 
The application of whole genome sequencing (WGS) in the clinical care of patients with epilepsy is increasingly viable as the cost of these assays continue to reduce. Our team is currently evaluating the utility and cost-effectiveness of WGS for refractory epilepsy in children and adults using a multicentre randomised controlled trial. For each patient, genetic variation in their DNA must be curated to identify pathogenic/likely pathogenic variants. The proposed project will focus on structural variations (SVs) and will aim to: (i) characterise SVs identified in our study thus far; (ii); identify SVs that are common in both epilepsy patients and the general population; and (iii) apply different variant callers to determine concordance and efficacy and identify regions that are problematic for the variant callers. This project would suit a student who has, or is keen to learn, basic coding skills in R or Python with an interest in genomics and bioinformatics.
Essential criteria: 
Minimum entry requirements can be found here: https://www.monash.edu/admissions/entry-requirements/minimum
Keywords 
Keywords: Bioinformatics, genetics, genomics, epilepsy, precision medicine, Physiology, Development Biology, Biochemistry, Anatomy, Clinical Pathology, Pharmacology, Neuroscience, Human Pathology, Immunology.
School 
Central Clinical School » Neuroscience
Available options 
PhD/Doctorate
Masters by research
Honours
Time commitment 
Full-time
Top-up scholarship funding available 
No
Physical location 
Alfred Centre
Co-supervisors 
Dr 
Alison Anderson

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