Volume 30 | Supplement S1

Virtual Conference

28–31 August 2021

The ESHG conference delivered the latest findings in the field of human genetics, both basic and applied.

Additional information about the event may be found on the conference website:


Sponsorship: Publication of this supplement was sponsored by the European Society of Human Genetics. All content was reviewed and approved by the ESHG Scientific Programme Committee, which held full responsibility for the abstract selections.

Disclosure Information: In order to help readers, form their own judgments of potential bias in published abstracts, authors are asked to declare any competing financial interests.

Contributions of up to EUR 10 000.- (Ten thousand Euros, or equivalent value in kind) per year per company are considered “Modest”. Contributions above EUR 10 000.- per year are considered “Significant”.

Abstracts from the 54th European Society of Human Genetics Conference: oral presentations

Plenary sessions

PL1 Opening Plenary

PL2 What’s New? Highlight Session

PL4 Mendel Award Lecture

Concurrent symposia

S01 Machine learning methods for prioritising genetic variants

S02 Spatial omics

S03 Transposons

S04 Impact of GDPR on genomic data sharing

S05 Endogenous and exogenous mutagenesis in cancer

S06 Comparative genomics across species and populations

S07 Mind the gap: Translating genomic advances into clinical care

S08 Single cell genomics in cancer

S09 Biobanks in under-represented populations

S10 Gene-based therapy for inherited liver diseases

S11 Prevention, detection, and therapy in cancer

S12 Functional annotation of genomic variation

S13 Beauty of gametogenesis

S14 Genome architecture

S15 Cells competing cells - mosaicism and cancer

S16 ESHG-ASHG Building Bridges: Global genetics towards a socially just practice

S17 Biases in genetic studies: Estimation and impact

S18 Overgrowth syndromes, from discovery to therapy

S20 Counselling Over Various Informatic Devices: Lessons from Covid-19

S21 Delivering the promise of RNA therapeutics

S22 Integrated approaches for ciliopathies

Educational sessions

E01 New technologies

E02 ESHG-Y: Human organoids as genetic disease models

E03 Translational collaborations in hereditary cancer

E04 Dealing with uncertainty in genomic medicine

E05 Update on imprinting disorders

E06 Pharmacogenomics in the clinic

E08 Variant interpretation in the clinic

E09 What’s new in preimplantation genetic testing?

E11 Polygenic risks and me

E12 Bayesian methods applied in clinical settings

E13 Mapping the human body at the cellular level

E14 DNA methylation in Mendelian diseases

E15 Selection and population structure in biobank scale data

E16 Advances in Mendelian randomisation

E17 Chromosomal instability across lifetime

E18 Introduction to statistical analysis of genome-wide association studies (GWAS)

E19 Precision medicine in underserved populations

Concurrent sessions

C01 Developmental disorders & syndromes I

C02 Cardiovascular disorders

C03 Bioinformatics, machine learning and statistical methods

C04 Unraveling the complexity of neuropsychiatric genetics

C05 Reproduction is hot!

C06 COVID-19 Genomics

C07 Novel insights in inherited metabolic diseases

C08 Skeletal and connective tissue disorders

C09 Sensory disorders: multi-omics and long-read sequencing

C10 Genome-wide Association Studies

C11 New technologies and better diagnostics

C12 Counselling, communication and service delivery

C13 Cancer susceptibility: From mechanisms to clinic

C14 Advances in neurogenetics: From diagnosis to treatment

C15 Pleiotropic diseases: diagnosis and mechanisms

C16 Monogenic neurodevelopmental disorders

C17 Population genetics and genetic epidemiology

C18 Functional genomics and transcriptomics

C19 ELSI in genomics

C20 From mechanisms to therapeutic insights in cancer

C21 Clinical immunology and novel therapies of genetic diseases

C22 Developmental disorders & syndromes II

C23 Internal organs - Kidney, bowel, fat

C24 Genome variation and architecture

C25 Using genomics to personalise medicine

C26 Late Breaking

Abstracts from the 54th European Society of Human Genetics Conference: e-Posters

P01 Reproductive Genetics/Prenatal Genetics

P02 Sensory Disorders (Eye, Ear, Pain)

P03 Internal Organs & Endocrinology (Lung, Kidney, Liver, Gastrointestinal)

P04 Skeletal, Connective Tissue, Ectodermal and Skin Disorders

P05 Cardiovascular Disorders

P06 Metabolic and Mitochondrial Disorders

P07 Immunology and Hematopoietic System

P08 Intellectual Disability

P09 Neurogenetic and Psychiatric Disorders

P10 Neuromuscular Disorders

P11 Multiple Malformation/Anomalies Syndromes

P12 Cancer Genetics

P13 Genome Variation and Architecture

P14 Cytogenetics

P15 New Technologies and Approaches

P16 Diagnostic Improvements and Quality Control

P17 Bioinformatics, Machine Learning and Statistical Methods

P18 Personalised Medicine and Pharmacogenomics

P19 Population Genetics and Evolutionary Genetics

P20 Functional Genomics and Epigenomics

P21 New Treatments for Genetic Disorders

P22 Genetic Counselling/Services/Education

P23 Ethical, Legal and Psychosocial Aspects in Genetics


P25 COVID-19