ESHG pre-meeting courses

With the upcoming 2025 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 office@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 2025 the following courses have been planned:

Clinical NGS Data Interpretation Course

Thursday May 22 and Friday May 23at the Allianz MiCo, Milan, Italy

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
  • Caroline Racine, clinical geneticist, expert in molecular genetics of WES/WGS

Course assistants:

  • Lonneke Haer-Wigman, clinical molecular geneticist
  • Vladimir Ryzhikh, bioinformatician

We are pleased to inform you that we are in the process of applying for CME (Continuing Medical Education) credits for this course. Further updates regarding accreditation will be shared as soon as the application process is complete.

Thursday May 22, 2025

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 (E. Kamsteeg, R. Pfundt)
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 (E. Kamsteeg, R. Pfundt)
16.45 – 17.00 Q&A, wrap up of day 1 (All)

Friday May 23, 2025

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 (E. Kamsteeg, R. Pfundt)
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: Long-read sequencing technical variant interpretation
16.45 – 17.00 Q&A, wrap up of the course (All)
Course fees:

Regular: EUR 200

Trainees: EUR 100

Register here

Unleashing the Power of Large-Scale Genomic Public Databases

Friday May 23 at the Allianz MiCo, Milan, Italy

This course introduces participants to large-scale public genomic databases, providing foundational knowledge for leveraging these resources in their research. Attendees will explore key datasets such as GWAS catalog and the PGS catalog, and learn to integrate them with in silico functional genomics tools like FUMA GWAS. Through a mix of lectures and practical exercises, participants will gain the skills needed to independently access, analyze, and apply these powerful resources to their scientific endeavors.

Learning goals:

  • Gain insights into the types and applications of key large-scale public genomic databases.
  • Learn relevant statistical methods to analyze these resources effectively.
  • Provide a comprehensive guide of essential public genomic databases and tools, enabling participants to independently explore these resources after the course.
  • Understand the framework and utility of GWAS summary statistics and the PGS catalog.
  • Learn to use online tools like FUMA GWAS for annotating, prioritizing, and interpreting GWAS summary statistics.

Number of participants: 100 people maximum

Course organizers:

Juliana Miranda Cerqueira, Karoline Kuchenbaecker, Inga Prokopenko

Friday May 23, 2025

Time Programme Item
13.00 – 13.10 Welcome and course introduction
13.10 – 14.10 Session 1: Large-scale public genomic databases: making the most of these resources (Karoline Kuchenbecker)

  • 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.

Note: A comprehensive guide, available as a PDF or hosted on a website, will be prepared and shared by the organizers. This guide will provide an overview and detailed insights into key large-scale genomic databases, ensuring participants have access to essential information. Participants can then, after the course, focus on specific databases of interest for further exploration and analysis.
14:10 – 15.10 Session 2: GWAS summary statistics catalog: overview and practical examples (Karoline Kuchenbecker)

  • Fundamentals in GWAS
  • Introduction to GWAS summary statistics catalog: where and how to use them?
15:10 – 15.30 Coffee break
15.30 – 17.15 Session 3: FUMA GWAS – A tool for integrate genomic analysis (Ayse Demirkan & Juliana Miranda Cerqueira)

  • 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 analysis
17.15 – 18.15 The Polygenic Score (PGS) Catalog (Inga Prokopenko & Michael Inouye)

  • Fundamentals in Polygenic Risk Scores
  • Overview of the PGS Catalog and available online tools: calculating PGS
18.15 – 18.30 Wrap-Up and Q&A
Course fees:

Regular: EUR 100

Trainees: EUR 50

Register here

A professional development workshop: Interactive approaches to genetic teaching

Friday May 23 at the Allianz MiCo, Milan, Italy

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 genetic teaching. The importance to educate (future) healthcare professionals in genetics is also often stressed in goals of (inter)national 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 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 will introduce participants to the basic concepts of adult education development including the concept of gamification and 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.

Learning goals:

After this educational workshop each participant is able design a genetic teaching component that is interactive and can be directly applied to a specific target audience

Number of participants: 60 people maximum

Course organizers:

Bregje van Bon, Celia Soares

Friday May 23, 2025

Time Programme Item
13.30 – 18.30 tba
Course fee:

 EUR 85

Register here