Germline Mutation Prioritisation for Inherited Diseases

An exome or gene-panel test of a patient with a suspected inherited disease yields hundreds of rare variants. This project ranks the genes of a case so that the clinical scientist looks at the right one first.

Category: Bioinformatics - Genomics and Sequence Analysis (Ensemble Learning)

Bioinformatics Project B04 from ProTechSC Academy, with graphical abstract, video demonstration and project guidance.