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1
Introduction
2
Disclosure
3
Objectives
4
DNA
5
WholeTranscriptome Sequencing
6
How can we improve the diagnostic yield
7
How can we classify alterations
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The value of RNA
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Challenges of retrospective RNA testing
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RNA genetic testing
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Simultaneous analysis
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How this works
13
Building the database
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Pancreatic cancer
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Clinical lab vs translational lab
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Impact on diagnostic yield
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Impact on positive yields
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GWRS
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Overall impact
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Community Health Network
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Patient Story
22
Globalizing
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Reports
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Summary
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Questions
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Inherited vs denovo mutations
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How do we make the determination
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Two questions
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Explaining RNA testing
30
Should RNA testing be considered
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RNA testing vs whole genome sequencing
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Are all genes testable by DNA
Description:
Explore the potential of RNA testing as the next frontier in clinical genetics for hereditary cancer diagnosis. Learn how concurrent DNA and RNA genetic testing can increase detection of clinically-actionable variants and reduce variants of unknown significance (VUS). Discover the basic principles of RNA genetic testing, its role in variant detection and classification, and its overall impact on diagnostic yield. Examine specific case examples and understand the challenges of retrospective RNA testing. Gain insights into the process of simultaneous DNA and RNA analysis, database building, and its applications in various cancer types, including pancreatic cancer. Compare clinical lab approaches with translational lab methods and evaluate the impact on positive yields and overall diagnostic outcomes. Understand the globalization of this approach, reporting methods, and its potential implications for inherited versus de novo mutations. Consider the future of RNA testing in relation to whole genome sequencing and its applicability across different genes. Read more

Will RNA Testing Be the Next Del-Dup for Clinical Genetics - Webinar - Ambry Genetics

Ambry Genetics
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