Abstract submission for ESHG 2022 is now closed.

Notifications about the outcome of the breaking abstract assessment will be sent to all presenting authors by May 16, 2022.

The Scientific Programme Committee will consider a maximum of 6 abstracts that have a major impact in the field. Accepted talks will be assigned to the concurrent session “Late Breaking”, scheduled on Sunday, June 12, 2022, at 10:30-12:00 hrs (CEST).

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 Programme Committee uses these rankings to develop the scientific sessions. Abstracts are assigned to either plenary, concurrent or poster sessions.

The ESHG2022 conference has 3 types of acceptance for submissions:

  • Oral Presentation: Presenter must attend the in-person conference* to present their work as an in-person spoken presentation. In addition, the presentation will be live streamed on the virtual conference platform.
  • Hybrid Poster: Presenter must attend the in-person conference* to present their poster during one of the “Poster Viewing with Author” sessions. In addition, these presenters must upload a PDF version of their poster to the virtual conference platform.
  • Digital Only Poster: Presenter must attend the online conference through the virtual conference platform and upload their poster to the platform as a PDF document.

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

*The Scientific Programme Committee will evaluate the in-person presentations based on the national COVID-19 measures.


  • The presentation at the meeting (in-person or online) will be the condition for the publication of the abstract in the electronic supplement of the European Journal of Human Genetics. Accepted abstracts will be published in the Journal after the conference.
  • 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 2022 – 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 (1-11 as well as 13) 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 12 (multiple malformation/anomalies syndromes).
Topic 14 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 15 is meant for abstracts related to chromosome studies.
Topic 16 shall draw attention to brand new concepts or new genomic technologies and the evaluation of their potential.
Topic 17 is dedicated to general aspects of technical approaches and quality control in genetic diagnostics and research.
Topic 18 is dedicated to abstracts related to bioinformatics, machine learning and statistical approaches in genomics.
Topic 19 is meant for abstracts studying the role of genomics to personalize medicine, including but not limited to the application of pharmacogenomics.
Topic 20 is meant for abstracts in genetic epidemiology, population genetics and evolutionary genetics.
Topic 21 is for abstracts dedicated to epigenetic studies and functional genomic studies.
Topic 22 is for abstracts related to novel therapeutic opportunities for genetic disorders.
Topics 23 and 24 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 25 is dedicated to abstracts presenting the genetics of complex diseases and traits, GWAS results and approaches.
Topic 26 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
02. Prenatal Genetics
03. Sensory Disorders (Eye, Ear, Pain)
04. Internal Organs & Endocrinology (Lung, Kidney, Liver, Gastrointestinal)
05. Skeletal, Connective Tissue, Ectodermal and Skin Disorders
06. Cardiovascular Disorders
07. Metabolic and Mitochondrial Disorders
08. Immunology and Hematopoietic System
09. Intellectual Disability
10. Neurogenetic and Psychiatric Disorders
11. Neuromuscular Disorders
12. Multiple Malformation/Anomalies Syndromes
13. Cancer Genetics
14. Genome Variation and Architecture
15. Cytogenetics
16. New Technologies and Approaches
17. Diagnostic Improvements and Quality Control
18. Bioinformatics, Machine Learning and Statistical Methods
19. Personalized Medicine and Pharmacogenomics
20. Population Genetics and Evolutionary Genetics
21. Functional Genomics and Epigenomics
22. New Treatments for Genetic Disorders
23. Genetic Counselling/Services/Education
24. Ethical, Legal and Psychosocial Aspects in Genetics
25. GWAS
26. COVID-19