This first 3-day residential training course on “Quality assurance, variant interpretation and data management in the NGS diagnostic era” will host 20 participants.
The course will build on expertise gained by EuroGentest and help in the translation of research tools to diagnostic applications (in line with the IRDiRC objectives). The impact is on the quality and reliability of NGS results, obtained through rare disease research.
This is an annual course for scientists, bio-informaticians and clinicians with an interest in genomic technologies. The aim is to teach participants about the evaluation of the pathogenic nature and clinical significance of genetic variants, on the criteria that have to be set to the NGS analysis pipelines and on the use of international databases.
Application deadline 31 July 2019