Abstract submission for ESHG 2021 is now open.

The ESHG invites you to submit abstracts for inclusion in the ESHG 2021 conference programme. The final deadline for abstract submission is Friday, February 12, 2021, 24.00 hrs CET. Submissions after the deadline cannot be accepted.

Important note about registration:
If you are an abstract presenter, please do not register for the conference until the conference office has communicated to you the outcome of your submission. With the notification you will receive further information on how to register as an abstract presenter.

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, concurrent or e-Poster sessions.

The ESHG2021 conference has 3 types of acceptance for submissions:

  • Oral Presentation: to be presented in a live concurrent or plenary session on the virtual platform
  • Live e-Poster: to be presented in one of the “e-Poster viewing with authors” sessions on the virtual platform
    Note: Presenters will have a dedicated chat in their e-Poster to answer questions from participants during their designated slot.
  • On-demand e-Poster: to be displayed digitally in the e-Poster area on the virtual platform

The format of acceptance will depend on the scoring result of the respective abstract.
Submitters will be informed about the format of their abstract in their acceptance notification.


  • 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.
  • If you are an abstract presenter, please do not register for the conference until the ESHG office has communicated to you the outcome of your submission. With this notification you will receive further information on how to register as an abstract presenter.


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 2021 – 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 the 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, machine learning 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. ELPAG is now an integral and yearly part of the programme, and covers general issues of genetic counselling, education and public services, psychological, ethical and legal issues.
Topic 24 is dedicated to abstracts presenting the genetics of complex diseases and traits, GWAS results and approaches.
Topic 25 is for abstracts dedicated to molecular evolution, population genetics and/or phenotype-associated with the sars-cov-2 pathogen.

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, Machine Learning and Statistical Methods
18. Personalized Medicine and Pharmacogenomics
19. 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
24. GWAS
25. COVID-19

Deadline: February 12, 2021