03/26/2020

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

12-14 October 2020. Istanbul, Turkey

GENERAL INFORMATION

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.

PARTICIPANTS

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.
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 35 participants will be admitted to the training course.

REGISTRATION

Online registration form. Registration  is OPEN and free. Registration deadline is 20 July 2020.
IMPORTANT. Please, note that a mitigation plan is in place due to Covid-19.

TRAVEL FELLOWSHIP

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 apply.

FEES AND COSTS

The training course 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 organizers will not cover expenses incurred by the participants.

ATTENDANCE CERTIFICATES

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.

OFFICIAL LANGUAGE

Workshops will run in English.

VENUE

ACIBADEM Üniversitesi, Kerem Aydınlar Kampüsü
Ataşehir/İstanbul, Türkiye

CONTACT

If you have questions please write to the:

 

DOWNLOAD THE PROGRAM AND ADDITIONAL INFORMATION

EJP RD – Quality Assurance NGS Diagnosis TRaining – Preliminary Program