Bioinformatics for clinical geneticists



This two-day training course is aimed at clinical geneticists who want to gain or update their awareness and practical experience of the bioinformatics resources used in medical genetics.

Delegates will learn about the databases, software and tools used in preparing diagnostic laboratory reports. Practical workshops will demonstrate these resources, how and why they are used, and the information that they provide geneticists. The course will also explore the clinical signifi cance of these resources and how to best apply them within diagnostic genetics.

Delegates will:

  • Gain an understanding of bioinformatics and the role it plays in medical genetics
  • Identify the extent of variation within the human genome and the implications this has for diagnostic genetics
  • Interpret the bioinformatic information presented on laboratory reports
  • Explain the applications of key bioinformatics databases and tools used in diagnostic laboratories; such as dbSNP, DGV, HGMD, DECIPHER and mutation interpretation tools
  • Gain practical experience with these resources
  • Relate knowledge of reported variants to their wider clinical significance


For more information please download the course flyer here

Review the preliminary course programme here

Cost including lunch and refreshments: 

UK Public sector £350
Private & overseas £400


As sponsored by:


BlueGenome OGT


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