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Event I June 10-13, 2023

The European Human Genetics Conference 2023 (ESHG)

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Download our scientific poster "IVDR performance studies demonstrate a sensitive and accurate aneuploidy test"

 

 

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Sign-up to watch our symposium on the latest advancements in next-generation automated genetic testing for cystic fibrosis and familial hypercholesterolemia shared by our esteemed speakers Prof. Milan Macek and Silvia Borras.  

 

Next Generation Sequencing: Changing the game in CFTR analysis

This whitepaper is authored by Stewart Payne, Consultant Clinical Scientist at UK National Health Service and Head of Molecular Genetics in the North West Thames Regional Genetics since 1995. Stewart’s laboratory was one of few in the UK offering CFTR whole gene analysis by Sanger sequencing and has recently translated whole gene analysis to next generation sequencing.

  • How NGS enables routine screening of all published CFTR mutations.
  • Categories of CFTR mutations and interpretation of CFTR mutation data.
  • What the future holds for CFTR diagnostics and targeted therapies.
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