Assessing GAA mutation predictions from the CAGI Challenge
Pompe disease is a lysosomal disorder caused by deficient activity of the GAA enzyme due to mutations in the GAA gene. This can be fatal to patients with infantile onset and cause patients of other onsets to develop muscular dystrophy and respiratory dysfunction. However, early detection can immensely help treatment of patients! Thus, our lab has been working on assessing the predictions derived by the participants in the Critical Assessment of Genome Interpretation Challenge (CAGI 5) – a global experiment that evaluates the phenotypes that result from genetic variation. Through URAP, this past year I’ve been working on conducting bioinformatics research to compare the CAGI predictions with predictor algorithms in the dbNSFP database. This summer, I will be working towards creating a phenotype-genotype matrix, or a diagnostic tool, to map enzyme activity and predictions from algorithms to clinical data (i.e to determine how pathogenic a mutation is) in order to help clinical practice and improve the understanding of the disease.