Predicting disease phenotypes based on genotype data
Phenylketonuria is an inherited metabolic disorder that affects 1 in 10000 newborns every year. Left undiagnosed and untreated, phenylketonuria can cause severe neurological impairment. My project uses machine learning methods on genotypic data to predict the phenotypic impact of genetic mutations. These predictions can supplement current methods used to screen newborns for phenylketonuria.