Addressing Difficult Biology: 10x and OneSeq Phased Exome to Resolve NGS
Dr. David W. Craig
Wednesday, March 1, 2017
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Chapters
Introduction
Research Group Overview
Capture & NGS Has Revolutionized Our Ability To Identify The Genetic Cause Of High Penetrance Disorders
Implicated Variants By Class & Inheritance
Areas To Improve In Variant Detection
We Need Better Single Exon Deletion Detection
We Need To Reach NGS Deadzones
We Need Phased Haplotypes
Approaches
Evolving Custom SureSelect Capture Strategy Over 5 Years
Combining 10x Phased Sequencing & OneSeq Capture
10x & OneSeq
Archival Sample Selection For 10x & OneSeq
Example 1: Phased Compound Heterozygote
Example 2: FLG
Example 3: Single Exon Deletion & Missense
Example 3: Single Exon Deletion & Missense cont.
Example 4: Exon Deletion
Example 5: Complex SNV
Conclusions And Key Messages
Acknowledgements
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