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

23-25 October 2019, Leuven


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 European Joint Programme for Rare Diseases (EJP RD). EJP RD is a European Commission co-funded project (GA 825575, 2019-2023).
The main objectives of the program WP14 are to decrease 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.


The WP14 program will achieve the objectives 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 TRAINING COURSES on Standards and quality of genetics/genomics data in laboratory and clinical research practice

The organisation of the specific training courses in program WP14.2 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.


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.
The next meetings will be hosted in Istanbul, Rome, Tubingen 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 1st training course will consist of lectures and hands-on trainings, with an interactive and learner-centred approach.
Participants are asked to bring their laptops. For the hands-on sessions, a class room with individuals PC’s will be available.
To ensure active participation and exchange with teaching staff and fellow participants, a maximum of 20 participants will be admitted to the training course.

REGISTRATION – Application deadline 31 July 2019

Registration closed. 


The training course and registration is free of charge. Coffee, refreshments and lunches will be offered during the course.
Participants are expected to arrange their own travel, accommodation and other expenses to attend the training course.
The course organisers will not cover expenses incurred by the participants.


Two travel fellowships are available to cover one round trip flights (for a max. of €350) and up to three nights of hotel accommodation (for a max. of €120/night). Especially participants from EU-13 countries (Estonia, Latvia, Lithuania, Poland, Czech Republic, Slovakia, Hungary, Slovenia, Bulgaria, Romania, Malta, Cyprus, Croatia) are encouraged to subscribe.


A Scientific Selection Committee, including the 5 core partners for this series of training courses (KU Leuven, EKU Tübingen, ACU/ACURARE Istanbul, ISS Rome, IPCZD-CHMI Warsaw,) will select the final list of participants and the 2 travel fellowships.
After July 31, all registered participants will be informed if they are selected to attend this training course.


KU Leuven, Campus Gasthuisberg, Herestraat 49, Onderwijs & Navorsing, Building: ALO, 3000 Leuven, Belgium


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.


The training courses will be in English.


If you have questions, please write to the organiser of this first training course, Prof. Gert Matthijs


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