A Novel and Rapid Digital PCR-based Method for the Identification of 22q11.2 Deletion Syndrome
Dr. Flora Tassone, Ph.D.
Monday, November 18, 2013
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Chapters
Introduction
22q11.2 Deletion Syndrome
Genomic hotspots and human disease
Current Methods for Determining 22q11.2 Deletions
Droplet digital PCR for quantification of DNA Copy Number of 22q11.2DS
Study objectives
Real-Time and ddPCR
Diagnosis by TUPLE1
Multiplex by ddPCR
Conclusions
Acknowledgments
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