Day 1: Introduction to tools for variant interpretation

  • Key concepts for variant interpretation for monogenic disorders
  • Workshop - use of resources including; population frequency databases, in silico tools, allele frequency calculator
  • Decipher workshop
  • Use of genome sequencing for Short Tandem Repeat (STR) analysis
  • Introduction to the ACGS version of the American College of Medical Genetics variant interpretation guidelines, variants of uncertain significance and the role of the MDT in interpreting results 
  • Networking

Day 2:  Case-based variant interpretation

  • Genome/Exome sequencing strategies for clinical diagnostic testing
  • Workshop - Deciding which test to do and principles of variant interpretation for rare
    monogenic paediatric disorders
  • The importance of the phenotype in variant interpretation
  • Interpretation of copy number variants
  • Workshop - Interpreting genomic test results for rare monogenic paediatric disorders
  • Communicating genomic results and discussing uncertainty


Limited HEE funded places (including accommodation) are available for clinical geneticists, genetic counsellors, paediatricians and paediatric neurologists, please book before 31/07/2022

Apply for a fully funded place

If you have any queries, please email [email protected] or call +44 (0) 1392 722964

Event flyer
BACCH is registered in England & Wales, charity number 1129758 and company number 06738129 at 5-11 Theobalds Road, London, WC1X 8SH.
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