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1
Intro
2
Goals of this Webinar
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Cystic Fibrosis Transmembrane Conductase Regulator (CFTR)
4
Classic Cystic Fibrosis
5
CFTR-related disorders
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CFTR structure
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CFTR gene
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Distribution of Mutation
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DeltaF508
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Variant Classification System
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Primary Classification Tools
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International Agency for Research on Cancer
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European Cystic Fibrosis Society
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CFTR2 Project
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American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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Challenge: Variable Presentation
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Challenge: Literature
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Challenge: Internal Data
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AR diseases and population frequencies
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Hardy-Weinberg Law
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CF School recommendations
22
In the News
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CFTR Variant Classification At Ambry
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Poster Presentation ACMG 2014
25
Methods
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After Analysis
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Take home points
28
Thank You!
Description:
Explore a webinar featuring genetic counselors Kendra Waller and Jade Tinker as they delve into the analysis of historical mutations in the CFTR gene, revealing a high number of reclassified variants and their implications for genetic testing. Gain insights into cystic fibrosis, CFTR-related disorders, and the challenges in variant classification. Learn about the CFTR gene structure, mutation distribution, and various classification tools used by international agencies. Understand the complexities of variable presentation, literature interpretation, and internal data analysis in genetic testing. Discover how Ambry Genetics approaches CFTR variant classification and the key takeaways from their research presented at ACMG 2014.

Analyzing Historical Mutations in the Cystic Fibrosis Gene - Ambry Genetics

Ambry Genetics
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