A New Paradigm for Genomic Diagnosis
Peter L. Nagy, M.D., Ph.D.
Monday, October 14, 2024
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Chapters
Introduction
The Challenge
Case study
The reason why microarray, targeted panel, whole exome and even generic whole genome testing might not result in a genetic diagnosis
The Praxis Genomics paradigm for efficient genetic testing
The basic exome-> expanded exome-> whole genome -> OGM-> transcriptome stepwise upgrade architecture
Technologies supporting this approach
Flexible and Fast
Technologies supporting this approach-Saphyr Whole Genome Optical Mapping Instrument
Microscopic analysis of ultrahigh-molecular-weight DNA - Optical Genome Mapping (OGM)
High throughput secondary and tertiary analysis pipelines-Genoox
Case studies: characterization of structural variants with WGS and OGM together-70kb duplication on distal p arm of chromosome 7
Case studies: characterization of structural variants with WGS and OGM together-Hemizygous deletion of BRCC3
OGM shows an insertion into BRCC3 rather than deletion shown by WGS. Insertion has labelling pattern of UNCX region from chromosome 7
Summary of complex structural variant detected using combined use of OGM and whole genome sequencing
Functional assessment of SVs using transcriptome analysis
A novel syndrome?
Summary
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