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
Overview
Syllabus
Intro
Goals of this Webinar
Cystic Fibrosis Transmembrane Conductase Regulator (CFTR)
Classic Cystic Fibrosis
CFTR-related disorders
CFTR structure
CFTR gene
Distribution of Mutation
DeltaF508
Variant Classification System
Primary Classification Tools
International Agency for Research on Cancer
European Cystic Fibrosis Society
CFTR2 Project
American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Challenge: Variable Presentation
Challenge: Literature
Challenge: Internal Data
AR diseases and population frequencies
Hardy-Weinberg Law
CF School recommendations
In the News
CFTR Variant Classification At Ambry
Poster Presentation ACMG 2014
Methods
After Analysis
Take home points
Thank You!
Taught by
Ambry Genetics
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