The European Society
of Human Genetics

Clinical Genomics and NGS

Clinical Genomics and NGS

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:



Medical Genetics concepts and principles

Phenotype to genotypeDian Donnai & H. Brunner
Complex disorders and classical gene identificationA. Read
Cytogenetics and arraysE. Klopocki
GWAS and follow-upK. Ludwig

NGS basics and applications in clinical genetics

Basics of next generation sequencing technology

A. Hoischen

Basics of NGS bioinformaticsC. Gilissen
NGS in patient careL. Snijders Blok
The new era of clincial geneticsK. Boycott

Beyond the exome, rare disease therapy

Non-coding mutations/long-range effectsA. Reymond
Imprinting - perspective from a clinicianK. Temple
SMA: From gene and modifier to therapyB. Wirth
Therapy and cancerJ. Burn
Special lecture: Long read genomesE. Eichler

New technologies and big data

Patterns of rare variation contributing to diseaseK. Samocha
Boundaries between rare and common diseaseM. Spielmann
Non-invasive prenatal testingJ. Weiss
Global Views of Mammalian DevelopmentJ. Shendure

Romeo-McKuscik lecture
Organoids to model human disease

H. Clevers


Registration Fee

  • EUR 50,-

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

  • Yes, all talks will be available for registered participants until August 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)