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

Author(s):
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 (0000-0002-6304-1710); Janssen, B.; Peters, D.J.M. (0000-0001-6974-7143); Losekoot, M.; Anvar, S.Y.
Published
2017
Publication type
Article / Letter to editor
ADPKDcomplex genomic regionsDNA diagnosticslong-read sequencingPacBioPKD1single-molecule real-time sequencingvariant detection
Date issued
2017-07-31
Language
English
Is part of
Human Mutation (2017), Vol. 38, no. 7, p. 870-879
hdl
1887/115957
doi
10.1002/humu.23223