ESHG pre-meeting courses – Registration is now open

With the upcoming 2023 meeting, the ESHG Education Committee 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

For 2023 two topics have been planned. 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.

ESHG Course: HGVS nomenclature

Friday, June 9, 2023 at the Crowne Plaza Hotel Glasgow
The subject of the pre-meeting course is “HGVS nomenclature”, i.e. the international standard for the description of variants in DNA, RNA and protein sequences (see
The course will be a mix of short lectures, discussions with participants and online Q&A sessions using the DirectPoll system. Participants will receive a short but thorough introduction to the recommendations, with a focus on immediate application to examples from daily practice. After the course participants should be able to understand the meaning of different variant descriptions, check their validity and apply the recommendations to generate variant descriptions following the HGVS nomenclature standard.

The course will be presented by Johan den Dunnen, one of the initiators of the nomenclature standard and the current chair of the HUGO HGVS Variant  Nomenclature Committee (HVNC).

Time Programme
12.00-12:15 Course introduction
12.15-12:30 HGVS nomenclature history and organisation
12.30-13:15 General recommendations: reference sequences and variant descriptions
13.15-14:00 Substitutions, deletions, duplications
14.00-14:15 Coffee break
14.15-15:00 Insertions, inversions and complex
15.00-15:30 Q&A applying HGVS nomenclature
15.30-15:45 Coffee break
15.45-16:30 Description variants in RNA / protein
16.30-17:00 Questions participants
17.00 End of course
Course fees:

Regular: EUR 100
Trainees: EUR 50

ESHG Course: ACMG-AMP classification system

Friday, June 9, 2023 at the Crowne Plaza Hotel Glasgow

In this course, participants will learn how to use the ACMG-AMP classification system in daily practice. The course will be a mixture of lectures, practical workshops (Basic and Advanced) and an interactive part where participants can bring their own “difficult to classify” variants or cases which we will try to solve/ discuss together.

One well known challenge in using the ACMG/AMP codes is the fact that two lab scientists looking at the same data often come up with contradictory results. These differences are often due to the different weighting of the codes. To address this problem, the sequence variant interpretation working group (SVI) publishes recommendations for the use/weighting of the codes. This will also be discussed during the course.

The course will be presented by Andreas Laner, who is a member of the InSiGHT Variant Curation Expert Panel (InSiGHT-VCEP Colorectal Cancer) and oversees the variant interpretation/ curation process at a large diagnostics laboratory in Germany (MGZ Munich).

Notes: The participants are encouraged to bring their own variants of interest

Time Programme Item
12.00-13.00 Lecture: The ACMG-AMP classification system
13.00-13.30 Lecture: Recommendations from the SVI and refinements by Variant Curation Expert Panels (VCEP´s)
13.30-13.45 Coffee Break
13.45-14.45 Workshop Part 1: How to use individual codes (basic)
14.45-15.00 Coffee Break
15.00-16.00 Workshop Part 2: Solving cases (advanced)
16.00-17.00 Interactive discussion: Bring you own variants/ cases and Q/A
17.00 End of course
Course fees:

Regular: EUR 100
Trainees: EUR 50

ESHG Course: Clinical NGS Data Interpretation Course

Thursday June 8 and Friday June 9 at the Crowne Plaza Hotel Glasgow


  • 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 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

Number of participants: 35 people maximum
Course instructors:

  • Christian Gilissen, bioinformatician, expert in WES analysis
  • Rolph Pfundt, clinical molecular geneticist, expert in cytogenetics of WES
  • Erik-Jan Kamsteeg, clinical molecular geneticist, expert in molecular genetics of WES
  • Anne-Sophie Denommé-Pichon: clinical geneticist, expert in WES

Thursday June 8, 2023

Time Programme Item
8.30 – 9.00 Registration
9.00 – 9.45 Lecture: General background on WES sequencing and bioinformatics )
9.45 – 10.30 Lecture: Exome data interpretation of SNVs
10.30 – 10.45 Coffee break
10.45 – 12.30 Workshop: exome interpretation of SNVs with cases
12.30 – 13.30 Lunch
13.30 – 14.00 Lecture: technical challenges in SNV detection and interpretation
14.00 – 14.45 Lecture: Exome data interpretation of CNVs
14.45 – 15.00 Coffee break
15.00 – 16.30 Workshop: exome interpretation CNVs with cases
16.30 – 17.00 Q&A, wrap up of day 1

Friday June 9, 2023

Time Programme Item
9.00 – 9.45 Lecture: Complex WES cases
9.45 – 11.30 Workshop: Exome data interpretation of complex cases
11.30 – 11.45 Coffee break
11.45 – 12.30 Interactive lecture: incidental findings
12.30 – 13.30 Lunch
13.30 – 14.15 Lecture: options for a negative exome
14.15 – 15.30 Interactive lecture: Variants of uncertain significance
15.30 – 15.45 Coffee break
15.45 – 16.45 Interesting cases by participants that they present
16.30 – 17.00 Q&A, wrap up of day 1
Course fees:

Regular: EUR 100

Pre-conference meeting: International Cerebral Palsy Consortium

Friday, June 9, 2023, 13:00-17:00 hrs (BST) at the Scottish Event Campus, Glasgow, Room: Alsh 1

In this workshop, members of the International Cerebral Palsy Genomics Consortium (ICPGC) will introduce and discuss the latest advances in the genomics of Cerebral Palsies (CP). CP is a clinically heterogenous neurodevelopmental disorder that causes lifelong impairment of movement and posture. Previously, CP was commonly attributed to various environmental factors, although the specific cause for most individuals was unknown. Genetic studies using whole exome or whole genome sequencing have shown that at least 30% of individuals with CP have a clinically relevant genetic diagnosis.

This workshop will be a mixture of lectures, short talks on current research, a panel session, and a Q&A given by members and supporters of the International Cerebral Palsy Genomics Consortium (ICPGC).

This event is open to all delegates of the ESHG and is free to register.

Time Programme Item
13.00-14.30 Lecture: Cerebral Palsy Epidemiology

Lecture: Genetic Diagnostic Vield in CP

Lecture: CP Genes

14.30-14.45 Coffee Break
14.45-15.45 Breaking research from ICPGC members (8mins each)
15.45-16.00 Coffee Break
16.00-17.00 Panel and Q&A
17:00 End of course
Course fees:

Free of charge