The European Society
of Human Genetics

Clinical Genomics and NGS

Clinical Genomics and NGS


33rd Course jointly organized by ESHG and CEUB


May 6 - 7 and 10 - 11, 2021
Virtual Edition

Course Directors

  • Han Brunner (Nijmegen and Maastricht, the Netherlands)
  • Christian Gilissen (Nijmegen, the Netherlands)
  • Alexander Hoischen (Nijmegen, the Netherlands)
  • Tommaso Pippucci (Bologna, Italy)
  • Brunhilde Wirth (Cologne, Germany)


Please click below for direct access to the respective sections:



Please note that all times mentioned below refer to Central European Summer Time (CEST)

Thursday, May 6, 2021
Medical Genetics concepts and principles

TimeTitleSpeaker & Moderator
09.00–09.15Introduction to the virtual courseH. Brunner & T. Pippucci
09.15–10.15Phenotype to genotypeDian Donnai & H. Brunner
10.15–11.00Complex disorders and classical gene identificationA. Read
11.00–11.30Coffee break
11.30–12.15Cytogenetics and arraysE. Klopocki
12.15–13.00GWAS and follow-upK. Ludwig
13.00–13.15Coffee break
13.15–14.00Reflection of day 1


Friday, May 7, 2021
NGS basics and applications in clinical genetics

TimeTitleSpeaker & Moderator
13.00–13.15Introduction day 2T. Pippucci & B. Wirth
13.15–14.00Basics of next generation sequencing technologyA. Hoischen
14.00–14.45Basics of NGS bioinformaticsC. Gilissen
14.45–15.15Coffee break
15.15–16.00NGS in patient careL. Snijders Blok
16.00–16.45The new era of clincial geneticsK. Boycott
16.45–17.15Coffee break
17.15–18.00Reflection of day 2
18.00–19.00Breakout session: fireside chat with faculty


Monday, May 10, 2021
Beyond the exome, rare disease therapy

TimeTitleSpeaker & Moderator
13.00–13.15Introduction day 3B. Wirth & C. Gilissen
13.15–14.00Non-coding mutations/long-range effectsM. Spielmann
14.00–14.45Epigenetics, imprinting, clinicalK. Temple
14.45–15.15Coffee break
15.15–16.00SMA: From gene and modifier to therapyB. Wirth
16.00–16.45Therapy and cancerJ. Burn
16.45–17.15Coffee break
17.15–18.00Reflection of day 3
18.00–19.00Evening lecture: Long read genomesE. Eichler


Tuesday, May 11, 2021
New technologies and big data

TimeTitleSpeaker & Moderator
13.00–13.15Introduction day 4C. Gilissen & A. Hoischen
13.15–14.00Patterns of rare variation contributing to diseaseK. Samocha
14.00–14.45Boundaries between rare and common diseaseA. Reymond
14.45–15.15Coffee break
15.15–16.00Non-invasive prenatal testingJ. Weiss
16.00–16.45Single-cell genomicsJ. Shendure
16.45–17.15Coffee break
17.15–18.00Reflection of day 4
18.00–19.00Romeo-McKuscik lectureH. Clevers


Registration Fee

  • EUR 50,-
  • One fee applies for all participants

What is covered by the registration fee?

  • Access through the virtual platform to all scientific sessions
  • Access through the virtual platform to all recorded sessions until June 11, 2021

Registration schedule

  • Registration for the virtual conference will open on February 1, 2021
  • Cancellation until March 31, 2021: 50% refund
  • Cancellation as of April 1, 2021: no refund
  • April 25, 2021: Deadline for registrations with payments by bank transfer
  • April 30, 2021: Registration closes
  • May 6 - 7 and 10 - 11, 2021: Bertinoro Course - Virtual Edition

Payment modalities

Payment of Registration Fees, may be made in EURO by:

  • Credit Card: Mastercard, Visa and Diners Club.
  • Bank Transfer to the conference account until April 25, 2021.
  • Payments need to be made without charges for the beneficiary. Clearly state the registration number, invoice number and participant’s name when processing the transaction.


Cancellations and refunds

Notice of cancellation must be made in writing by e-mail  to the Congress Office:

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

  • until March 31, 2021: 50% refund
  • as of April 1, 2021: 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 2021, participants agree that neither the organising committee nor the congress office assume any liability whatsoever.

Refunds will be made after May 11, 2021


Congress Office:
Ms. Catherine Tomek
Alser Strasse 4
1090 Vienna, Austria
T: +43 1 405 13 83 18
F: +43 1 405 13 83 918
E: bertinoro-course(at)