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1
Introduction
2
Reminders
3
Logistics
4
Rashid Karim
5
Presentation Objectives
6
How can we improve the positive yield
7
How to improve the positive yield
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Data on the positive yield
9
RNA Sequencing in Blood
10
Improving the Diagnostic Use of RNA
11
Retrospective Analysis of Variants
12
Limitations
13
Workflow
14
Forecast
15
How RNA can detect novel variants
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New case detection
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New data
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Data
19
DNA Analysis
20
Population Database
21
RNA Genetic Testing
22
Variant Assessment
23
Questions
24
Recommendations
Description:
Explore how concurrent DNA and RNA genetic testing enhances the detection of clinically-actionable variants and reduces variants of unknown significance (VUS) in hereditary cancer testing. Learn about the latest advancements in diagnostic yield improvement through this informative webinar presented by Dr. Rachid Karam and moderated by Tara Namey, MS, LCGC. Discover the benefits of RNA sequencing in blood, understand the workflow and limitations of this approach, and examine retrospective analyses of variants. Gain insights into how RNA can detect novel variants, review new case detection data, and understand the impact on DNA analysis and variant assessment. Conclude with recommendations and a Q&A session to deepen your understanding of this cutting-edge approach to increasing the positive yield of hereditary cancer genetic testing.

Increasing the Positive Yield of Hereditary Cancer Testing with DNA and RNA - Ambry Genetics

Ambry Genetics
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