Whole-exome sequencing of genomic DNA from blood
A total of 3 g of DNA from the patient was sheared to pieces 150200 bp in size via a Covarias M220 Ultrasonicator system . The adapter-ligated library was generated with the Agilent SureSelect Target Enrichment System, and the capture library including both coding exons and flanking intronic regions was produced using the SureSelect XT Human All Exon V6 reagent kit. Clusters were then generated by isothermal bridge amplification using an Illumina cBot station.