ESHG pre-meeting courses

With the upcoming 2026 meeting, the ESHG plans to start with a series of so-called “pre-meeting courses”. Education has a prominent place at the annual ESHG meetings. The program of the annual meeting has specific educational sessions and workshops, which give participants the opportunity to learn about the latest developments in the field of human genetics. However, this education tends to focus on the high end of developments, there seem to be less opportunities for participants seeking more basic education and training. The pre-meeting courses plan to fill this gap, i.e. offer on-site education and training in the more basic subjects in human genetics.

The ESHG Education Committee would like to know which subjects you would like to get covered during the pre-meeting courses. Please send wishes, suggestions etc. to courses@eshg.org

Introductory lectures covering the basis of the subjects, will be followed by tasks where the participants will directly apply what was learned by trying to solve practical examples.

For 2026 the following courses are planned (in-person courses only):

Please note that these courses are not part of the conference programme. A separate registration and payment is required.

Clinical NGS Data Interpretation Course

This course is already fully booked. And the waiting list is already too long to accommodate additional requests.

Thursday June 11 and Friday June 12 at Svenska Mässan (Conference Venue)

Considerations:

  • Focus on the clinical interpretation of variants, only basics of sequencing technologies, not the analysis, not ELSI issues
  • Practical course with an emphasis on people working with real data and cases
  • Focus on WES and WGS data. This is most used, has most cases and data, and is in important ways similar to WGS

Learning goals:

  • How to interpret SNVs from WES data
  • How to interpret CNVs from WES data
  • What practical tools/databases for WES interpretation are freely available
  • How the interpretation of WGS data is different from WES data

Number of participants: 60 people maximum

Course instructors:

  • Christian Gilissen, bioinformatician, expert in WES/WGS analysis
  • Rolph Pfundt, clinical molecular geneticist, expert in cytogenetics of WES/WGS
  • Erik-Jan Kamsteeg, clinical molecular geneticist, expert in molecular genetics of WES/WGS
  • Lonneke Haer-Wigman, clinical molecular geneticist, expert in molecular genetics of WES/WGS
  • Caroline Racine, clinical geneticist, expert in molecular genetics of WES/WGS

Course assistants:

  • Vladimir Ryzhikh, bioinformatician

Thursday June 11, 2026

Time Programme Item
08.30 – 09.00 Registration
09.00 – 09.45 Lecture: General background on (WES) sequencing and bioinformatics (C. Gilissen)
09.45 – 10.30 Lecture: SNV interpretation for exomes and genomes (E. Kamsteeg)
10.30 – 10.45 Coffee break
10.45 – 12.30 Workshop: SNV interpretation with exome and genome cases (All)
12.30 – 13.30 Lunch
13.30 – 14.15 Lecture: technical challenges in SNV detection and interpretation (C. Gilissen)
14.15 – 15.00 Lecture: CNV interpretation for exomes and genomes (R. Pfundt)
15.00 – 15.15 Coffee break
15.15 – 16.45 Workshop: CNV interpretation with exome and genome cases (All)
16.45 – 17.00 Q&A, wrap up of day 1 (All)

Friday June 12, 2026

Time Programme Item
09.00 – 09.45 Lecture: ACMG guidelines and Variants of uncertain significance (C. Racine)
09.45 – 10.30 Lecture: Complex cases (L. Haer-Wigman)
10.30 – 10.45 Coffee break
10.45 – 12.30 Workshop: Complex interpretation (All)
12.30 – 13.30 Lunch
13.30 – 14.15 Interactive lecture: incidental findings (C. Racine)
14.15 – 15.00 Lecture: Advantages of long-read sequencing (C. Gilissen)
15.00 – 15.15 Coffee break
15.15 – 16.45 Workshop: Complex interpretation (All)
16.45 – 17.00 Q&A, wrap up of the course (All)

CME Credits:

The Clinical NGS Data Interpretation Course , Gothenburg, Sweden 11/06/2026 – 12/06/2026 , has been accredited by the
European Accreditation Council for Continuing Medical Education (EACCME®) with 13.0 European CME credits (ECMEC®s).
Each medical specialist should claim only those hours of credit that he/she actually spent in the educational activity.

Through an agreement between the Union Européenne des Médecins Spécialistes and the American Medical Association,
physicians may convert EACCME® credits to an equivalent number of AMA PRA Category 1 CreditsTM. Information on the
process to convert EACCME® credit to AMA credit can be found at https://edhub.ama-assn.org/pages/applications .

Live educational activities, occurring outside of Canada, recognised by the UEMS-EACCME® for ECMEC®s are deemed to be
Accredited Group Learning Activities (Section 1) as defined by the Maintenance of Certification Program of the Royal College
of Physicians and Surgeons of Canada.

Course fees:

Regular: EUR 200

Students: EUR 100

Please not that for the Traine fee, a proof has to be uploaded during the registration (ie student ID).

This course is already fully booked.

Teach the teacher Genetics

Friday June 12 at Svenska Mässan (Conference Venue)

The increased usage of genetic diagnostic technologies by non-genetic health care professionals along with the current development of genetic therapies has created a significant demand for clinical and molecular genetic teaching. The importance of educating (future) healthcare professionals in genetics and rare diseases is also often stressed in goals of international genetic bodies, in scientific studies and by policy makers.

Whether you are a PhD student, bioinformatician, laboratory or clinical geneticist (in training), most of us are involved in genetic and rare disease teaching at some point during our career. Although the importance of teaching is more obvious than ever, professional training to develop genetic teaching skills are scarce. This highly interactive workshop is aimed at genetic & rare disease professionals early in their careers who are considering or have just started teaching, as well as more experienced professionals who have never received formal training in educational development.

We will introduce participants to the basic concepts of education development including a demonstration session of several interactive genetic teaching activities. The main goal of this workshop is to design an interactive genetic educational activity using appropriate didactic strategies. Participants will be able to work in small groups, guided by expert genetic teachers, to develop their own novel interactive genetic education activity.

Number of participants: 30 people maximum

Course instructors:

  • Bregje van Bon: Clinical geneticist, Head Genomic Medicine, clinical genetics residency program director (Radboud University Medical Center)
  • Arjan de Brouwer: Molecular geneticist, teaching coordinator  (Radboud University Medical Center)
  • Ernie Bongers: Clinical geneticist (Radboud University Medical Center)

Friday June 12, 2026

Time Programme Item
10.00 – 11.00 Introduction & basic concepts of education development (Bregje van Bon)
11.00 – 11.30 Demonstration examples of interactive and practical genetic education (Ernie Bongers & other instructors)
11.30 – 12.15 Teaching lab: small group assignments
Define SMART learning outcomes
12.15 – 13.15 Lunch Break
13.15 – 14.15 The classroom playground: small group assignments
Design out of the box!
14.15 – 14.30 Intermezzo: The use of AI tools in education design (Arjan de Brouwer)
14.30 – 14.45 Coffee Break
14.45 – 15.45 Bring your teaching activity to life
Design & deliver
15.45 – 16.45 Teach the teacher showcases
Small group presentations
16.45 – 17.00 Evaluation and closure

CME Credits:

The Teach the teacher Genetics, Gothenburg, Sweden 12/06/2026 – 12/06/2026 , has been accredited by the European
Accreditation Council for Continuing Medical Education (EACCME®) with 5.5 European CME credits (ECMEC®s). Each medical
specialist should claim only those hours of credit that he/she actually spent in the educational activity.

Through an agreement between the Union Européenne des Médecins Spécialistes and the American Medical Association,
physicians may convert EACCME® credits to an equivalent number of AMA PRA Category 1 CreditsTM. Information on the
process to convert EACCME® credit to AMA credit can be found at https://edhub.ama-assn.org/pages/applications.

Live educational activities, occurring outside of Canada, recognised by the UEMS-EACCME® for ECMEC®s are deemed to be
Accredited Group Learning Activities (Section 1) as defined by the Maintenance of Certification Program of the Royal College
of Physicians and Surgeons of Canada.

Course fees: EUR 100
Register here

Unleashing the Power of Large-Scale Genomic Public Databases

Friday June 12 at Svenska Mässan (Conference Venue)

This course introduces large-scale public genomic databases and computational genomics tools. Participants will explore key resources, including the GWAS Catalog and PGS Catalog, and learn how to integrate these data with functional genomics platforms such as FUMA GWAS.
Through practical exercises and real research examples, attendees will develop the skills to access, analyze, and interpret complex genomic data and apply these approaches directly to their own scientific questions. After the course, participants will receive a curated guide to essential genomic databases and tools to support independent exploration and continued learning.

Learning Goals

  • Identify major large-scale public genomic databases and understand how to use them effectively accordingly to specific scientific questions.
  • Apply relevant statistical approaches to analyze genomic datasets.
  • Understand the structure and utility of GWAS summary statistics and the PGS Catalog.
  • Use tools such as FUMA GWAS to annotate, prioritize, and interpret GWAS results.
  • Gain insights into emerging AI-driven genomics tools and understand how they can be integrated into genomic research workflows.

Number of participants: 65 people maximum

Course organiser: Juliana Miranda Cerqueira

Co-course organisers: Karoline Kuchenbaecker, Inga Prokopenko

Friday June 12, 2026

Time Programme Item
13.00 – 13.10 Welcome and course introduction (Juliana Miranda Cerqueira)
13.10 – 14.10 Session 1: Large-scale public genomic databases: making the most of these resources (Karoline Kuchenbaecker)
General types and aims of key publicly genomic databases
Relevant statistical methods applied to explore these resources
Addressing ancestry bias in public genomic data: implications on genetic findings
Strategies for ensuring equitable populations representation.
14.10 – 15.10 Session 2: GWAS summary statistics catalog: overview and practical examples (Karoline Kuchenbaecker)
Fundamentals in GWAS
Introduction to GWAS summary statistics catalog: where and how to use them?
15.10– 15.30 Coffee break
15.30 – 17.00 Session 3: FUMA GWAS – A tool for integrated genomic analysis
Introduction to FUMA: Annotating, prioritizing, and interpreting GWAS results.
Overview of in silico databases resources available in FUMA (e.g. GTEx)
Identifying potential causal variants/genes: practical examples using fine-mapping
and colocalization analysisPolygenic Score (PGS) – Introduction (Inga Prokopenko)
17.00 – 17.15 Coffee break
17.15 – 18.15 Session 4: The PGS Catalog
Overview of the PGS Catalog and available online tools: calculating PGS
18.15 – 18.30 Wrap-Up and Q&A (Juliana Miranda Cerqueira)

Course fees:

Regular: EUR 100

Students: EUR 50

Please not that for the Traine fee, a proof has to be uploaded during the registration (ie student ID).

Register here