Caitlin E's Senior Project Blog

Project Title: Applying Artificial Intelligence Tools for Genetic Diagnosis of Neurodevelopmental Disorders BASIS Advisor: Regina Ponder Internship Location: University of Arizona College of Medicine in Phoenix Onsite Mentor: Dr. Isabelle Schrauwen

Project Abstract

In recent years, artificial intelligence tools have become prevalent across several fields, including neuroscience. As reported cases of neurodevelopmental diseases have increased, the expanding body of literature on these conditions has contributed to a deeper understanding of their diagnosis and treatment. For instance, AI tools such as MARRVEL and ClinPrior are capable of playing a central role in determining the genetic bases of neurological disorders. MARRVEL is an artificial intelligence system designed to identify the genetic causes of disorders. The classification model derives information from multiple genetic databases. Trained on over 3.5 million genetic variants from thousands of diagnosed cases, MARRVEL’s unique features make it an effective tool in discovering molecular diagnoses. ClinPrior, on the other hand, is a data analysis tool that uses an interactome-based prioritization approach to rank candidate causal genetic variants based on a patient’s phenotype; in other words, ClinPrior matches phenotypic information with possible genetic diagnoses via a multi-layered evaluation method. Through this processing sequence, ClinPrior ultimately maximizes the diagnostic yield for rare genetic conditions. In this project, based in the Schrauwen lab at the University of Arizona College of Medicine in Phoenix, I aim to analyze results files from both MARRVEL and ClinPrior. As I search for the genetic diagnoses for the neurodevelopmental disease cases I encounter, I look forward to deepening my knowledge of neuroscience, genetics, and data analysis. Additional mentor: Anushree Acharya, MS