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2012:Diagnostic exome sequencing for ID in routine diagnostics
 100 patients
 Trio‐based exome sequencing  Focus on de novo mutations  New and novel diagnosis
De novo coding mutations are a common cause of severe ID ‐ Exonic point mutations and indels explain up to 35%
‐ Most mutations are de novo in origin
New England Journal of Medicine 2012
Same story but WGS: diagnostic yield increases to 60%!
ab
Page 11 of 102
WGS unbiased cohort
Increase explained by: Better representation of the coding sequencing in WGS data than in WES data Better detection of structural variation in WGS data than in microarray data
Gilissen et al. Nature 2014
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