An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease
Fig 4
Mutations detected in other genes for cystic and polycystic kidney disease.
Examples for sufficient coverage (plots, upper panel) and detected mutations (pseudo-electropherograms and alignments in SeqNext software) in PKD2 (A), HNF1B (B) and PKHD1 (C). The small red box indicates the position of the mutation in the gene track (IGV). Robust CNV detection is possible in all genes of the panel as demonstrated for a heterozygous deletion of NPHP1 (D, for details see legend Fig. 2).