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Deciphering Developmental Disorders

By December 13, 2022January 26th, 2023No Comments

In this on-demand webinar, Professor Matthew Hurles covers:

  • The UK-wide Deciphering Developmental Disorders study, focusing on:
    • exome sequencing of parent-offspring trios
    • clinical interpretation workflow
    • what factors influence diagnostic yield 
    • discovery of novel disorders 
  • An overview of the UK-wide Prenatal anomalies (PAGE) study 
  • The DECIPHER web portal to improve variant interpretation 
  • And the future of variant interpretation, inclusion of large-scale functional data. 

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