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:

Programme

 

Medical Genetics concepts and principles

TitleSpeaker
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

TitleSpeaker
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

TitleSpeaker
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

TitleSpeaker
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

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.

Contact

Congress Office:
WMA GmbH
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)eshg.org