Interpretable prioritization of splice variants in diagnostic next-generation sequencing
Daniel Daniš, Julius O.B. Jacobsen, Leigh Carmody, Michael Gargano, Julie A. McMurry, Ayushi Hegde, Melissa Haendel, Giorgio Valentini, Damian Smedley, Peter N. Robinson
Topics & Concepts
spliceComputational biologyRNA splicingGeneticsIntronExonPrioritizationSplice site mutationSequence (biology)BiologyAlternative splicingComputer scienceGeneRNAEngineeringManagement scienceRNA and protein synthesis mechanismsRNA Research and SplicingRNA modifications and cancer