Quality assurance, variant interpretation and data management in the NGS diagnostics era

  • 19 octobre 2022 - 10:00

Due to the force majeure situation and in order to ensure the correct progress of the planned tasks of EJP RD, the international course “Quality assurance, variant interpretation and data management in the NGS diagnostics era”, October 19-21, 2022, will be held ONLINE. 

The Training Course “Quality assurance, variant interpretation and data management in the NGS diagnostics era” is a part of a series of training activities proposed by the European Joint Programme on Rare Diseases (EJP RD). EJP RD is a European Commission funded project (grant agreement No 825575, 2019 – 2023) with the goal “to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation”. For more information about the EJP-RD, see https://www.ejprarediseases.org/

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: Dr. Claudio Carta, ISS, Task Leader Gert Matthijs, KU Leuven

Course Director 2022: Holm Graessner, Tübingen

The Course is made up of 3 days of training, organized by the University Hospital in Tübingen (EKUT) in close collaboration with Task Leader KU Leuven and, mainly, EJP RD Task Partners [ISS Rome, ACU/ACURARE Istanbul, IPCZD (CHMI) Warsaw, 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.


Registration deadline is 21 August 2022 23:59 CEST. An email will be sent by 2 September 2022 to the selected participants. Respondents who are not selected will be kept on a waiting list until 7 October 2022.

The training course is open to the international research community, clinicians, medical specialist, laboratory scientists (EBMG registered), junior laboratory scientists, clinical geneticists, policy makers and assessors for laboratory accreditation, and patient representatives, with a basic knowledge in biology or medicine. 

To ensure active participation and exchange with teaching staff and participants a maximum of 30 participants will be admitted to the ONLINE training course.

A Scientific Selection Committee, including the 5 core partners for these series of training courses (ISS Rome, KU Leuven, EKUT Tübingen, ACU/ACURARE Istanbul, IPCZD-CHMI Warsaw,) will select the final list of participants. 

The course and registration are free of charge. The course organisers will not cover expenses incurred by the participants in any case. 

At the end of the course a learning assessment, based on an online multiple-choice questionnaire will take place. 


If you have questions, please write to the course organiser : Holm Graessner  (Holm.Graessner@med.uni-tuebingen.de)     (in CC:   birte.zurek@med.uni-tuebingen.de ; Liliane.geyskens@kuleuven.be)


  • Start Date:19 octobre 2022
  • Start Time:10:00
  • End Date:21 octobre 2022
  • End Time:14:00
  • Location:ONLINE