The abstract submission for ESHG is closed.

Notifications regarding the acceptance/rejection of your abstract have been sent on March 19, 2020.
If you have not received any notifcation, please contact us at

Based on abstract reviewing scores, 5% of abstract submitters were invited to give a talk, 68% were assigned a printed poster, 25% were assigned an e-Poster and 2% were rejected.

Please note that due to the current COVID-19 situation ESHG has decided to extend the deadline of the registration at reduced fees until May 8, 2020.

Important Information on the Selection Process

All abstracts are peer-reviewed and ranked on the basis of scientific merit by experts in the category selected. The Scientific Program Committee uses these rankings to develop the scientific sessions. Abstracts are assigned to either plenary, parallel, or poster sessions.

The ESHG meetings have currently 3 types of acceptance for submissions:

Spoken presentation in a concurrent or plenary session
Poster presentation in one of the poster sessions
Electronic Poster presentation in the electronic poster area


  • The presentation at the meeting will be the condition for the publication of the abstract in the electronic supplement of the European Journal of Human Genetics.
  • By submitting an abstract you agree that your personal data are being saved and used by the organiser in order to process your submission, enable the presentation at the meeting and the publication of the abstract.
  • You may be presenting author of only one paper, but co-author of any number of abstracts.
  • Multiple submissions with identical presenting authors will be automatically rejected.
  • Identical submissions from different first authors will also be automatically rejected.
  • Abstracts containing no results or structure will be rejected.


Abstracts considered to be of particular interest to the media may be selected for press release. In this case, you will be contacted by the Society’s media consultant. Please note that, once work has been published, it cannot be considered as a candidate for a press release.

ESHG Abstract Submission Topics 2020 – Where does my abstract fit?

The enormous achievements in the field of Human Genetics during the last years are changing not only our understanding of genetics of diseases but also our research approaches and daily work in clinic. Due to the new developments and insights traditional borders between clinical genetics, cytogenetics and molecular genetics as well as between research into monogenic and complex disorders are vanishing. Therefore the Scientific Programme Committee of the European Society of Human Genetics decided to reflect these changes in its abstract submission categories.

Where does my abstract fit?

The disease categories (1-10 as well as 12) are meant to cover all aspects of the specific disorders indicated, i. e. clinically, cytogenetically and molecularly, ranging from basic research to diagnosis and treatment.
Abstracts related to complex syndromes and cytogenetic disorders with multiple symptoms may be submitted in topic 11 (multiple malformation/anomalies syndromes).
Topic 13 is meant for abstracts discussing genomic variation and genome structure not necessarily related to a specific phenotype (e. g. splicing mechanisms, origin of ring chromosomes etc.), whereas topic 14 is meant for abstracts related to chromosome studies.
Topic 15 shall draw attention to brand new concepts or new genomic technologies and the evaluation of their potential.
Topic 16 is dedicated to general aspects of technical approaches and quality control in genetic diagnostics and research.
Topic 17 is dedicated to abstracts related to bioinformatics and statistical approaches in genomics.
Topic 18 is meant for abstracts studying the role of genomics to personalize medicine, including but not limited to the application of pharmacogenomics.
Topic 19 is meant for abstracts in genetic epidemiology, population genetics and evolutionary genetics.
Topic 20 is for abstracts dedicated to epigenetic studies and functional genomic studies.
Topic 21 is for abstracts related to novel therapeutic opportunities for genetic disorders.
Topics 22 and 23 are reserved for previous EMPAG topics. EMPAG has now become an integral and yearly part of the programme, and covers general issues of genetic counselling, education and public services, psychological, ethical and legal issues.

We hope that these categories will enhance the communication between researchers using different approaches to investigate the respective phenotypic groups and facilitate the selection of workshops by attendees according to their field of interest.


01. Reproductive Genetics/Prenatal Genetics
02. Sensory Disorders (Eye, Ear, Pain)
03. Internal Organs & Endocrinology (Lung, Kidney, Liver, Gastrointestinal)
04. Skeletal, Connective Tissue, Ectodermal and Skin Disorders
05. Cardiovascular Disorders
06. Metabolic and Mitochondrial Disorders
07. Immunology and Hematopoietic System
08. Intellectual Disability
09. Neurogenetic and Psychiatric Disorders
10. Neuromuscular Disorders
11. Multiple Malformation/Anomalies Syndromes
12. Cancer Genetics
13. Genome Variation and Architecture
14. Cytogenetics
15. New Technologies and Approaches
16. Diagnostic Improvements and Quality Control
17. Bioinformatics and Statistical Methods
18. Personalized Medicine and Pharmacogenomics
19. Genetic Epidemiology, Population Genetics and Evolutionary Genetics
20. Functional Genomics and Epigenomics
21. New Treatments for Genetic Disorders
22. Genetic Counselling / Services / Education
23. Ethical, Legal and Psychosocial Aspects in Genetics