Exome sequencing of patient III.8
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).