Evaluating human mutation databases for “treatability” using patient-customized therapy
Swapnil Mittal, Isaac Tang, Joseph G. Gleeson
Topics & Concepts
Gain of functionExon skippingComputational biologyPathogenicityFunction (biology)spliceHuman genomeGeneticsMutationExonGenomeBiologyBioinformaticsGeneAlternative splicingMicrobiologyCRISPR and Genetic EngineeringGenomics and Rare DiseasesCancer Genomics and Diagnostics