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

12-14 October 2020. Istanbul, Turkey (ONLINE)

General Information

Due to COVID-19, the 2nd Training Course  on “Quality assurance, variant interpretation and data management in the NGS diagnostic era”, on 12-14 October 2020, Istanbul, will be held ONLINE.

The Training Courses on Standards and quality of genetics/genomics data in laboratory and clinical research practice are a part of a series of programs put forth by the EJP RD.
The main objectives of the program are to decrease rare diseases (RD) data fragmentation and increase data quality through training activities on data management & quality which will raise the level of capacities and help data sharing and networking within the RD community. In detail, the objectives will be achieved through (i) the integration and implementation of existing and successful training activities and (ii) development of new specific trainings to address all objectives.

This will ensure appropriate coverage of relevant aspects on data management & quality under a joint programme for meaningful interaction and comprehensive training across RD community in Europe.

The organisation of the specific training courses is coordinated by KU Leuven. Project partners are: EKU Tübingen, ACU/ACURARE Istanbul, ISS Rome, 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 of importance to provide training on the interpretation of genetic variants and quality standards.
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.

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 vision and goals). The impact is on the quality and reliability of NGS results, obtained through rare disease research.
The next meetings will be hosted in Rome, Tuebingen, and Warsaw.
Over the years, the course content will shift to total genome interpretation and other “-omics” applications which will entail novel disease molecular mechanisms.


The training courses are accessible to laboratory scientists (EBMG registered), junior laboratory scientists, clinical geneticists, other medical specialists in training, policy makers and assessors for laboratory accreditation, and patient representatives, with a basic knowledge in biology or medicine. 60% of participants should belong to the first two categories.
The training course will consist of lectures and hands-on trainings, with an interactive and learner-centred approach.
To ensure active participation and exchange with teaching staff and fellow participants, a maximum of 40 participants will be admitted to the ONLINE training course.


Registration  is CLOSED.


As the course will be ONLINE, no travel fellowships will be awarded.


The training course is free of charge. The course organizers will not cover expenses incurred by the participants.


A Scientific Selection Committee will select the final list of participants. Before the end of August 2020, all registered participants will be informed if they are selected to attend this training course.


At the end of the training course a Certificate Of Attendance will be handed out to the participants who attended the entire workshop.
No credits of Continuing Education in Medicine will be issued.


Workshops will run in English.




If you have questions please write to the:


EJP RD – Quality Assurance NGS Diagnosis Training – Program – ONLINE