WES of control un affected subject
DNA was extracted using The Promega Blood kit, catalog #A1120 according to the manufacturers instructions. DNA concentrations and purity were assessed using the Thermo Scientific NanoDrop 2000c. WES was performed on the DNA of the patient and two unaffected siblings, one of them previously diagnosed with a brain tumor. DNA libraries were generated using the Illumina DNA Prep with Enrichment - (S) Tagmentation, 16 Samples kit, catalog # 20025523, following the manufacturers instructions. Library yield was determined using Qubit dsDNA HS Assay Kit, catalog # Q32850, and the mean fragment size was determined using an Agilent Technology 2100 Bioanalyzer with a High Sensitivity DNA kit, catalog #5067-4626 . Denaturation and final loading concentration of the libraries were performed according to the Denature and Dilute Libraries Guide for NextSeq 500 and NextSeq 550 Sequencing Systems.