Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance
Jamie M. Ellingford, Robert B. Hufnagel, Gavin Arno
Abstract
Inherited retinal diseases (IRDs) are a diverse and variable group of rare human disorders [...].
Topics & Concepts
PenetranceGeneticsGenotypePhenotypeExpressivityBiologyRetinalPopulationVariable (mathematics)Interpretation (philosophy)GeneMedicineComputer scienceProgramming languageMathematical analysisBiochemistryEnvironmental healthMathematicsRetinal Development and DisordersRNA regulation and diseaseGenomics and Rare Diseases