Analyzing Historical Mutations in the Cystic Fibrosis Gene - Ambry Genetics
Offered By: Ambry Genetics via YouTube
Course Description
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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