Quality assurance, variant interpretation and data management in the NGS diagnostics era
The 5th International Training Course on “Quality assurance, variant interpretation and data management in the NGS diagnostics era”, will take place in Warsaw (Poland) on 18-20 October 2023.
The Training Course “Quality assurance, variant interpretation and data management in the NGS diagnostics era” is part of a series of training activities proposed by the European Joint Programme on Rare Diseases (EJP RD). In particular, this Course is a part of the WP14 on “Data Management & Quality Training”, which aims to organize residential training courses in different Countries.
WP Leader: Claudio Carta, ISS
Task Leader: Gert Matthijs, KU Leuven
Course Director and Host 2023: Krystyna Chrzanowska, Warsaw, Poland (k.chrzanowska@ipczd.pl)
The Course is made up of 3 days of training, organized by the The Children’s Memorial Health Institute in Warsaw (CMHI), in close collaboration with Task Leader KU Leuven and, mainly, EJP RD Task Partners [ISS Rome, ACU/ACURARE Istanbul, EKUT Tübingen, CNAG-CRG Barcelona, INSERM (AMU) Marseille, UMC Groningen]
Next Generation Sequencing (NGS) generates overwhelming amounts of data. Clinical and basic researchers are increasingly confronted with the complexity of genomic data. It is therefore of fundamental importance to provide researchers and clinicians with specific trainings on the interpretation of genetic variants and quality standards. The endorsement of the European Society of Human Genetics, and of EuroGentest, has been received.