Exome sequencing of patient IV.5
Bar-coded DNA libraries were prepared and exome capture (Agilent 50 Mb  SureSelect Human All Exon V3) and sequencing (Life Technologies SOLiD5500)  was performed. Resulting reads (75 bp) were generated with Exact Call  Chemistry and aligned to the human reference sequence (hg19) with LifeScope  (Life Technologies), and variants were called with GATK and annotated with  in-house software (PolyWeb).