Clinical Research applications of CNV detection through Next Generation Sequencing
Dr. Amir Zare
Monday, November 28, 2016
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Chapters
Introduction
Disclaimer
Who is Courtagen and What do we do?
Courtagen's Product Offerings: An Overview
Historical Challenges for incorporating CNV
Genome Wide CNV detection from NGS data?
OneSeq™ from Agilent
Capture Used
The Samples
But First... R&D
D.R.E.A.M. PCR®
D.R.E.A.M. PCR® Ensures Sample Quality
Decontamination Testing
Decontamination Results from qPCR
Decontamination Results from Sequencing
OneSeq™ Panel Workflow
Bioinformatics
The Samples
Sample 1 - 46,XX,del(13)(q13q21.3)
Sample 2 - Trisomy 21 (47,XX,+21)
Sample 3 - 15q11.2 Dup
Sample 4 - 1p35.2 del
Sample 5 - 57-KB DEL (CTNS)
Sample 6 - 30-KB DEL (CYP21A2)
Sample 7 - 30-KB DEL (GALC)
Sample 8 - 6p22.2p21.33 LCSH
The Results
Summary
Special Thanks
Special Thanks
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