Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
Amali Mallawaarachchi, Ben Lundie, Yvonne Hort, Nicole Schönrock, Sarah R. Senum, Velimir Gayevskiy, André E. Minoche, Georgina E. Hollway, Thomas Ohnesorg, Marcus Hinchcliffe, Chirag Patel, Michel Tchan, Andrew J. Mallett, Marcel E. Dinger, Gopala K. Rangan, Mark J. Cowley, Peter C. Harris, Leslie Burnett, John Shine, Timothy J. Furlong
Topics & Concepts
PKD1Autosomal dominant polycystic kidney diseaseSanger sequencingWhole genome sequencingPolycystic kidney diseaseGeneticsBiologyGenetic testingPhenocopyMedicineDiseaseInternal medicineDNA sequencingGenomeGenePhenotypeGenetic and Kidney Cyst DiseasesRenal and related cancersGenetic Syndromes and Imprinting