Addressing Difficult Biology: OneSeq Phased Exome to Resolve NGS Dead Zones, Generate Haplotypes, and Identify Deletions
Dr. David W. Craig
Monday, November 28, 2016
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Chapters
Introduction
Disclaimer
Research Lab Overview
Capture&NGs has Revolutionized Our Ability to Identify the Genetic Cause of High Penetrance Disorders
Implicated Variants By Class & Inheritance
We Need Better Single Exon Deletion Detection
We Need to Reach NGS Deadzones
We Need Phased Haplotypes
Evolving Custom SureSelect Capture Strategy Over 5 Years
Combining 10X Phased Sequencing & OneSeq™ Capture
Archival Sample Selection For 10X & OneSeq™
Example 1: Phased Compound Heterozygote
Example 2: FLG
Example 3: Single Exon Deletion & Missense
Example 4: Exon Deletion
Example 5: Complex SNV
Conclusions And Key Message
Acknowledgements
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