The European Society
of Human Genetics

Clinical Genomics and NGS Course 2026

Clinical Genomics and NGS

 

Course Directors

  • Christian Gilissen (Nijmegen, the Netherlands)
  • Alexander Hoischen (Nijmegen, the Netherlands)
  • Tommaso Pippucci (Bologna, Italy)
  • Malte Spielmann (Lübeck, Germany)

General Information

Dear participants,

The 38th course on Clinical Genomics and NGS is planned as a live conference in Bertinoro, Italy from May 10-15, 2026 (see WEBSITE for details).

In addition, a virtual attendance will be possible as follows:

  • Availability of pre-recorded talks of the morning sessions from Sunday, May 10, 2026 to Thursday, May 14, 2026 for registered (virtual) participants.
  • Participants registered for the virtual edition will receive access to the pre-recordings via a dedicated link.
  • On the video platform, it is possible to ask questions under each video, which will be answered by the respective speakers during the event.

Important note: no access to live talks will be possible.

Programme

Saturday, May 9, 2026:

Arrival and dinner in cantina

Sunday, May 10, 2026

Morning Lectures: Medical Genetics concepts and principles
08:30-08:45 Participants Registration  
08:45-09:00 Introduction to the course T. Pippucci
09:00-09:45 Why Medical Genomics Matters D. Donnai
09:45-10:30 The architecture of monogenic disease H. Brunner
10:30-11:00 Coffee break  
11:00-11:45 Cytogenetics and arrays E. Klopocki
11:45-12:30 Complex disorders, classical gene identification and polygenic scores M. Nothnagel
12:30-13:00 Discussion of the morning lectures  
13:00-14:00 Lunch Break  
Afternoon Workshops
Session I
14:00 – 15:30		    
  Mutation patterns H. Brunner
  Next Generation Cytogenetics (Computer Room) E. Klopocki
  GWAS analysis and polygenic scores for beginners M. Nothnagel
  Twins, Twinning and Malformations  D. Donnai
15:30-16:00 Coffee Break  
Session II
16:00 – 17:30		    
  Mutation patterns H. Brunner
  Next Generation Cytogenetics (Computer Room) E. Klopocki & A. Hoischen
  GWAS analysis and polygenic scores for beginners M. Nothnagel
  Twins, Twinning and Malformations  D. Donnai

Monday, May 11, 2026

Morning Lectures: Clinical genetics & NGS
08:55-09:00 General Announcements  
09:00-09:45 Syndromology in the NGS era S. Douzgou Houge
09:45-10:30 Genetic Imprinting D. Mackay
10:30-11:00 Coffee break  
11:00-11:45 Basics of next generation sequencing technology A. Hoischen
11:45-12:30 Basics of NGS bioinformatics C. Gilissen
12:30-13:00 Discussion of the morning lectures  
13:00-14:00 Lunch Break  
Afternoon Workshops
Session I
14:00 – 15:30		    
  Bioinformatics Basics (Computer Room) T. Pippucci & C. Gilissen
  What if we sequenced everybody all of the time? H. Brunner
  Syndromology in the NGS era S. Douzgou Houge
  Genetic Imprinting D. Mackay
15:30-16:00 Coffee Break  
Session II
16:00 – 17:30		    
  Bioinformatics Basics (Computer Room) T. Pippucci & C. Gilissen
  From genes to function B. Wirth
  Syndromology in the NGS era S. Douzgou Houge
  Genetic Imprinting D. Mackay

Tuesday, May 12, 2025

Morning Lectures:Genetic testing & non-coding variants
08:55-09:00 General Announcements  
09:00-09:45 Ethics in Genetics K. Ormond
09:45-10:30 Episignatures C. Charbonnier
10:30-11:00 Coffee break  
11:00-11:45 Therapy and cancer J. Burn
11:45-12:30 Near-coding variants in rare disease N. Whiffin
12:30-13:00 Discussion of the morning lectures  
13:00-14:00 Lunch Break  
Afternoon Workshops
Session I
14:00 – 15:30		    
  Variant interpretation (Computer Room) C. Gilissen & T. Pippucci
  Genetic Counselling what’s the point? J. Burn
  Non-coding mutations M. Spielmann
  Episignatures C. Charbonnier
15:30-16:00 Coffee Break  
Session II
16:00 – 17:30		    
  Variant interpretation (Computer Room) C. Gilissen & T. Pippucci
  Structural variants in cancer and rare diseases T. Rausch
  Non-coding mutations M. Spielmann
  Episignatures C. Charbonnier
17:30 Poster viewing session with aperitif (session I)  

Wednesday, May 13, 2026

Morning Lectures: Cancer and Therapy
08:55-09:00 General Announcements  
09:00-09:45 Cancer genomes T. Rausch
09:45-10:30 Cell-free DNA and its applications E. Sistermans
10:30-11:00 Coffee break  
11:00-11:45 Non-coding mutations/long-range effects M. Spielmann
11:45-12:30 SMA: From gene and modifier to therapy B. Wirth
12:30-13:00 Discussion of the morning lectures  
13:00-14:00 Lunch Break  
Afternoon Excursion

Thursday, May 14, 2026

Morning Lectures: New Technologies and Big Data
08:55-09:00 General Announcements  
09:00-09:45 Patterns of rare variation contributing to disease K. Samocha
09:45-10:30 Long read sequencing technologies E. Eichler
10:30-11:00 Coffee break  
11:00-11:45 Boundaries between rare and common disease A. Reymond
11:45-12:30 Massively parallel functional assays L. Starita
12:30-13:00 Discussion of the morning lectures  
13:00-14:00 Lunch Break  
Afternoon Workshops
Session I
14:00 – 15:30		    
  Interpretation of rare variants K. Samocha & N. Whiffin
  Long read sequencing E. Eichler
  Cell-free DNA and its applications E. Sistermans
  Testing multiple inheritance mode with animal and cellular models A. Reymond
15:30-16:00 Coffee Break  
Session II
16:00 – 17:30		    
  Interpretation of rare variants K. Samocha & N. Whiffin
  Long read sequencing E. Eichler
  Massively parallel functional assays L. Starita
  Testing multiple inheritance mode with animal and cellular models A. Reymond
17:30 Poster viewing session with aperitif (session II)  
Social dinner and farewell party

Friday, May 15, 2026

Morning Lectures: Highlights of the 2026 course
08:55-09:00 General Announcements  
09:00-10:00 McKusick-Romeo Lecture D. Duboule 
10:00-10:30 Coffee break  
10:30-11:30 Quiz on: “What have you learned”?  
11:30-12:00 Best poster pitches by students  
12:00-13:00 Lunch Break
Departure after Lunch

Registration (virtual participation)

Registration Fee for virtual participation only

  • EUR 50,-
  • The access links to the virtual platform will be sent on Monday, May 18, 2026.
  • Deadline for registration is August 10, 2026.

Will the talks be available for an on-demand review?

  • Yes, review of pre-recorded talks of the morning sessions (view programme above to see which talks will be made available) will be possible for registered participants until August 31, 2026 at 23.59hrs CEST.

Registration will open soon

Registration (on-site participation)

Registration for live participation

  • EUR 950,-
  • All participants are STRONGLY encouraged to present a poster. All abstracts will be accepted. Deadline for sending Abstracts or posters: April 10, 2026.
  • You can find further information here.

Cancellation

Cancellations and refunds

Notice of cancellation must be made in writing by e-mail  to the Congress Office:
 courses(at)eshg.org 

Registration fees may be refunded if written cancellation has been received as follows:

    until April 1, 2026: 50% refund
    as of April 2, 2026: no refund

The cancellation will not be effective until a written acknowledgement from the Congress Office is received. In the case of over-payment or double payment, refund requests must be made in writing and sent to the Congress Office by e-mail. No refunds will be granted for unattended events or early termination of attendance, in case of cancellation of speakers or any other incidents during the conference, which are beyond the control of the conference organisers.

No exceptions to the refund policy can be made, including health or family issues. By registering to Virtual Edition of the Bertinoro Course 2026, participants agree that neither the organising committee nor the congress office assume any liability whatsoever.

Refunds will be made after the course.

Contact

Congress Office:
WMA GmbH
Ms. Magdalena Seidl
Alser Strasse 4
1090 Vienna, Austria
T: +43 1 405 13 83 24
F: +43 1 405 13 83 924
E:  courses(at)eshg.org 

Genetic Education