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There is more to de novo mutations than meets the eye
“One patient is chance, Two patients is a series”
Clinical WES analysis: a two step process
Step 1: Gene panel
SNVs and CNVs in genes known for the disease
www.genomediagnosticsnijmegen.nl
Step 2: Open Exome
SNVs and CNVs outside panels (all genes)
Page 12 of 102
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