Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts
Caroline F. Wright, Luke N Sharp, Leigh Jackson, Anna Murray, James S. Ware, Daniel G. MacArthur, Heidi L. Rehm, Kashyap Patel, Michael N. Weedon
Topics & Concepts
PenetranceBiologyGeneticsPopulationContext (archaeology)GenotypeEvolutionary biologyPhenotypeMedicineGeneEnvironmental healthPaleontologyGenomics and Rare DiseasesGenetic Associations and EpidemiologyGenomic variations and chromosomal abnormalities