Page 16 - PCC08

Variants
Total called
After exclusion of nongenic,
intronic & synonymous variants
Average of 10 patients
21,755 5,640
Private variants 143 After exclusion inherited variants 5 Validation Sanger sequencing 0‐2
Nature Genetics 2010
Clinical whole exome sequencing at the Radboudumc
 25 different gene panels
 3,742 unique gene entries  >20,000 index cases tested
www.genomediagnosticsnijmegen.nl
Overall diagnostic yield approximately 35%
Page 10 of 102
16