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Where to begin?
Next step: Assessing the genes within the CNV
What if the phenotype isn't consistent (4D)?
Segregation In Affected Family Members
Segregation Example: AD Hypertrophic Cardiomyopathy
Overlap with Established TS, HI, or Benign Genes/Genomic Regions
Other cases: Padiath et al. 2006
What about the rest of the cases?
Summary