Discovery of Dual Diagnoses and Compound Genetic Events using NxClinical 4.0
Ben Darbro, M.D., Ph.D.
Monday, November 6, 2017
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Chapters
Introduction
Our Cytogenetics Laboratory
Chromosomal Microarrays (CMA)
DNA Sequencing
NxClinical 4.0
Targeted Sequencing Panel
NxClinical 4.0 Settings
Overview: SeqVars and CNVs
CNVs First
Dominant SeqVars Next
Recessive SeqVars Next
Compound Events
Conclusions
Acknowledgements
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