Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing

Borras, D.M.; Vossen, R.H.A.M.; Liem, M.; Buermans, H.P.J.; Dauwerse, H.; Heusden, D. van; ... ; Anvar, S.Y. (2017)

Article / Letter to editor

• ADPKD
• complex genomic regions
• DNA diagnostics
• long-read sequencing
• PacBio
• PKD1
• single-molecule real-time sequencing
• variant detection

• All authors: Borras, D.M.; Vossen, R.H.A.M.; Liem, M.; Buermans, H.P.J.; Dauwerse, H.; Heusden, D. van; Gansevoort, R.T.; Dunnen, J.T. den; Janssen, B.; Peters, D.J.M.; Losekoot, M.; Anvar, S.Y.
• Date: 2017-07-31
• Journal: Human Mutation
• Volume: 38
• Issue: 7
• Pages: 870 - 879
• DOI: doi:10.1002/humu.23223