Analyzing Historical Mutations in the Cystic Fibrosis Gene - Ambry Genetics

Analyzing Historical Mutations in the Cystic Fibrosis Gene - Ambry Genetics

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.