Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease
Nathaniel K. Mullin, Andrew P. Voigt, Jessica A. Cooke, Laura R. Bohrer, Erin R. Burnight, Edwin M. Stone, Robert F. Mullins, Budd A. Tucker
Topics & Concepts
BiologyDiseaseComputational biologyGeneGeneticsTranscriptomeInduced pluripotent stem cellRetinalAlternative splicingDNA sequencingBioinformaticsGenetic testingExonMedicineGene expressionPathologyBiochemistryEmbryonic stem cellCRISPR and Genetic EngineeringRetinal Development and DisordersSingle-cell and spatial transcriptomics