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

  • 27 October 2021 - 10:00

3rd Training Course
“Quality assurance, variant interpretation and data management in the NGS diagnostics era”
October 27 –29, 2021
Istituto Superiore di Sanità, Rome, Italy

Registration OPEN for Reserve List until September 12th


Due to the force majeure situation and in order to ensure the correct progress of the planned tasks of EJP RD, ISS ensures that the international course “Quality assurance, variant interpretation and data management in the NGS diagnostics era”, October 27-29, 2021, ISS, Rome 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: Dr. Domenica Taruscio, ISS.

The Course is made up of 3 days of training organized by Istituto Superiore di Sanità (ISS) in close collaboration with Task Leader KU Leuven and, mainly, EJP RD Task Partners [EKUT Tübingen, 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.

With the endorsement of the International Conference for Rare Diseases and Orphan Drugs, Società Italiana di Genetica Umana and also endorsed and taught by selected members of the Undiagnosed Diseases Network International Board of Directors. The endorsement of the European Society of Human Genetics, and of EuroGentest, has been received.

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.  

The training course will consist of plenary presentations, interactive question & answer sessions between speakers and participants, and hands-on trainings. 

You will find the programme here.

An email will be sent by 30 July 2021 to the selected participants.
Respondents should consider themselves on a reserve list until 11 October 2021
REGISTRATION IS NOW OPEN here for a Reserve List until 11 October 2021.
After this date (October 11, 2021) the selection process will close and we hope that the non-selected participants will apply for the next edition of the training course.

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. 

At the end of the course a certificate of attendance will be handed to the participants who attended 100% of the training course. No credits of Continuing Education in Medicine will be issued. 


If you have questions, please write to the course organiser Claudio Carta:
claudio.carta@iss.it (in Cc laura.cellai@iss.it)


  • Start Date:27 October 2021
  • Start Time:10:00
  • End Date:29 October 2021
  • End Time:16:30
  • Location:ONLINE