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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
Four Product Lines
Single Cell CNV Workflow
Library Creation Process Two Step Partitioning
Library Creation Process Single Cell DNA Barcoding
Cell Ranger DNA Software
Pseudo-bulk CNV profiles
Single cell genomics parses tumor-diploid mixture
CNV events in cancer single cells
CNV profiles of clustered cancer cells
Conclusions