From Exomes to Genomes and Back
Madhuri Hegde, PhD, FACMG
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Chapters
Introduction
Leveraging a Global Laboratory Network
CAG/ PKIG Integrated data analysis and interpretation pipeline
Expert Variant Analysis
Knowing the Limitations
Gene-Specific Mutation Spectrum
Technologies to Detect Various Types of Mutations
Next Generation Sequencing
Exome and Genome Sequencing in Gemonics
Panels or Exome/Genome?
Whole genome sequencing: Finding it all but at what cost?
Fixing the Exome
The Medical Exome Project
The Medical Exome Project: Standarize Medical Exome Sequencing
Mendeliome
Industry leading NGS library prep solution: SureSelect XT HS library prep workflow
Additional Contents of Enhanced Exome Capture
Strategy for Detection of Large Indels
Filing the Holes
Clinical Research Exome (CRE)
From v1 to v2 to v3: Progression in Design
Keeping Current on Curation
Gene Coverage
Variants
CREv3 and Competitors
Detection of Deep intronic variant in DYSF
Clinical Report
WES: CNV Detection
WES & WGS: CNV Detection
Mitochondrial Chromosome Coverage
Next Steps to Address Limitations of NGS
Medically-Relevant Genes with Homology Issues
Mendeliome
Integration of Next-Generation Phenotyping
Building a Comprehensive Profile
The Goal: A Comprehensive Continuum of Care
Acknowledgement
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