DNA from 21 patients with genetic variants in SDHB, VHL,
EPAS1, RET, (n=17) or clinical criteria of NF1 syndrome (n=4) were included. Results
were analysed in parallel using three different bioinformatics pipelines; (1)
Commercially available MiSEQ Reporter, fully automatized and integrated
software, (2) CLC Genomics Workbench, graphical interface based software, also
commercially available, and ICP (3) an in-house scripted custom bioinformatic
tool. A tenfold read coverage was achieved in between 95-98% of targeted bases.
All workflows had alignment of reads to SDHA and NF1 pseudogenes.
Click here to view the journal: Clinical and Experimental Genetics
