Variant interpretation and genome databases
Mission and Members
The basis of any DNA-based diagnostic is a robust and consistent interpretation of the detected variants, which could explain the patient’s clinical picture and which could have medical consequences (diagnostic, therapeutic, prognostic). This problem has existed since the beginning of DNA-based diagnostics; modern NGS-based high-throughput sequencing has only multiplied this issue. In particular, there is a risk that the ongoing commercialisation of genetic diagnostics (e.g. commercial software for variant interpretation based on AI or machine learning) could leave financially weak laboratories or countries behind. To prevent this gap between rich and poor from widening further, access to training for bioinformaticians and molecular geneticists is essential. For this reason, it is important to use open-source tools and teach the basics of variant interpretation: It is entirely possible to produce a state-of-the-art genetic diagnosis with open-source tools and well-trained staff.
Training molecular biologists, bioinformaticians, physicians and laboratory staff is our main focus. We offer annual courses (“Variant Effect Prediction Training Course” (VEPTC)), which have been very popular in the past and cover the full spectrum of variant interpretation.
Chair: Andreas Laner (MGZ – Medical Genetics Center, Germany)
Zilfalil Bin Alwi (Universiti Sains Malaysia)
Huy Do ((Vietnamese Organization for Rare Diseases)
Sherifa Hamed Assiut University Hospital, Egypt)
Vincent Harley (Hudson Institute of Medical Research, Australia)
Iscia Lopes-Cendes (University of Campinas, Brazil)
Tilak Shrestha (Tribhuvan University, Nepal)