PheGeClust - Identifying phenotypic subtypes with distinct genetic profiles in complex genetic disorders.
Complex genetic disorders result from the effects of many common genetic factors, each of small effect and can often present with heterogeneous phenotypes (observable characteristics). This project will involve the selection of phenotypic measures and genetic data from existing datasets containing data on thousands of individuals. Statistical models will be developed/adapted and applied to this data. Machine learning approaches will also be considered. These models and approaches will facilitate simultaneous grouping of individuals into homogeneous subtypes that share similar characteristics and the testing of differences in genetic effects across the identified subtypes. This will allow the assessment of the underlying biological mechanisms of the subtypes.
The application of this project will be to autism datasets. The models developed will provide a novel framework for exploring other heterogeneous conditions with complex genetic backgrounds, of which there are many.
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