DNA sample 1 of the TTDN1 patient
The exons from genomic DNA were captured, following the manufacturer's protocols. Briefly, DNA was sheared by acoustic fragmentation and purified. The quality of the fragmentation and purification was assessed with the Agilent 2100 Bioanalyzer. The fragment ends were repaired and adaptors were ligated to the fragments. The resulting DNA library was purified, amplified by PCR and captured by hybridization to the biotinylated RNA library baits (Agilent). Bound genomic DNA was purified with streptavidin coated magnetic Dynal beads (Invitrogen) and re-amplified. The whole-exome DNA library was sequenced on the Illumina HiSeq X10 sequencer in 150 bp paired-end reads.