Description
The American College of Medical Genetics (ACMG) criteria are the international rules and recommendations applied in the classification of a genetic variant. A set of 26 criteria codes are used to characterise and weight independent evidence elements (such as population, computational and functional data) to classify a variant as either pathogenic, benign or a variant of uncertain significance. Application of these criteria codes must be rigorous because as researchers we have an ethical obligation to return pathogenic variants to study participants - should they choose to receive it - which can influence their medical care.
This project will familiarise a student with the ACMG research framework and the process of classifying variants and the process of returning research results to research participants.
Essential criteria:
Minimum entry requirements can be found here: https://www.monash.edu/admissions/entry-requirements/minimum
Keywords
Genetics, cancer
School
School of Clinical Sciences at Monash Health / Hudson Institute of Medical Research » Medicine - Monash Medical Centre
Available options
Honours
BMedSc(Hons)
Time commitment
Full-time
Part-time
Physical location
Monash Health Translation Precinct (Monash Medical Centre)
Co-supervisors
Prof
Melissa Southey