Whole Exome Sequencing of Human DNA
A 4mL sample of saliva was obtained from the patient and DNA was purified using a DNA extraction kit (Qiagen DNeasy Blood and Tissue Kit) according to the manufacturer’s guidelines. DNA integrity was assessed by Agilent HS D1000 chip (Agilent) and exome capture was carried out using 1 µg of the patient’s purified genomic DNA and the SureSelect v5 + UTR Target Enrichment (Agilent). Sequencing was performed on the Illumina HiSeq2500 system with 100bp paired-end sequencing methods.