Volume 31 | Supplement S1

Vienna, Austria

June 11–14, 2022

© The Author(s), under exclusive licence to European Society of Human Genetics 2023

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:

https://2022.eshg.org/

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 55th European Society of Human Genetics Conference: Oral Presentations

Plenary sessions

PL1 Opening Plenary

PL2 What’s New? Highlight Session

PL3 ELPAG Award Lecture

PL5 ESHG Award Lecture

Concurrent symposia

S01 Reproductive carrier screening in 2022

S02 Methods for admixed populations

S03 Personalized care in breast cancer patients

S04 How do we deliver genomics education for all?

S05 Chromothripsis and complex rearrangements

S06 Disorders of lysosomal biogenesis and autophagy

S07 Cell lineages and organoids

S09 Mutation signatures

S10 Left/Right patterning/heterotaxy

S11 Peopling the world: One archipelago at a time

S12 The genetics of omics and beyond

S13 Unstable heritable genomic variations and cancer development

S14 Predictive genetic counselling for neurodegenerative conditions

S15 Genetic architecture of the human face

S18 The importance of somatic variation

S19 Polygenic scores: from methods to applications

S20 Cross-cultural communication and counselling

S21 Translational genetics of bone

S23 Non-coding RNAs in biology and disease

S25 Multiomics for diagnostics

S26 Federation of genomic medicine databases

Educational sessions

E02 Genetics, 200 years after the births of Mendel and Galton

E04 ESHG-Y: Filling the gaps by publishing negative results in genetics

E05 Mosaicism

E06 Genetic discrimination: Surveying the ethico-legal landscape

E07 Progress of imputation

E09 Pharmacogenomics for personalized drug treatment

E11 New treatments for congenital disorders

E12 Inherited metabolic disorders with acute presentations

E14 Precision medicine in the digital health era

Concurrent sessions

C01 New genes in NDDs

C02 Hereditary cancer syndromes and risk assessment

C03 Cellular differentiation and regulation

C04 Unravelling causes and mechanisms of multiple congenital anomalies

C05 Population and Evolutionary Genetics

C06 Counselling, Education and Service Delivery

C07 Metabolic and mitochondrial diseases

C08 New findings for old NDD genes

C09 Cardiac and neuromuscular genetics

C10 Internal organs and Immunology

C11 New diagnostics and treatments

C12 GWAS

C13 Patient Views on Clinical Genetics

C14 Late Breaking Abstracts

C16 Prenatal Genetics

C17 Clinical impact of molecular tumor profiling

C18 Machine learning, bioinformatics and biostatistics

C19 New gene defects and pathways in syndromic conditions

C20 Non-coding genome variation in Mendelian diseases

C21 Different strategies to unravel the genetic basis of NDDs

C22 Innovation in genetic risk assessment and diagnostics

C24 Molecular mechanism in cancer

C25 Reproductive Genetics

C26 New genes in multiple congenital anomalies

C27 New approaches and large datasets to unravel human traits

C28 Novel neurogenetic disorders

C29 Eye Genetics

Abstracts from the 55th European Society of Human Genetics Conference: e-Posters

P01 Reproductive Genetics

P02 Prenatal Genetics

P03 Sensory Disorders (Eye, Ear, Pain)

P04 Internal Organs & Endocrinology (Lung, Kidney, Liver, Gastrointestinal)

P05 Skeletal, Connective Tissue, Ectodermal and Skin Disorders

P06 Cardiovascular Disorders

P07 Metabolic and Mitochondrial Disorders

P08 Immunology and Hematopoietic System

P09 Intellectual Disability

P10 Neurogenetic and Psychiatric Disorders

P11 Neuromuscular Disorders

P12 Multiple Malformation/Anomalies Syndromes

P13 Cancer Genetics

P14 Genome Variation and Architecture

P15 Cytogenetics

P16 New Technologies and Approaches

P17 Diagnostic Improvements and Quality Control

P18 Bioinformatics, Machine Learning and Statistical Methods

P19 Personalized Medicine and Pharmacogenomics

P20 Population Genetics and Evolutionary Genetics

P21 Functional Genomics and Epigenomics

P22 New Treatments for Genetic Disorders

P23 Genetic Counselling/Services/Education

P24 Ethical, Legal and Psychosocial Aspects in Genetics

P25 GWAS

P26 COVID-19

Abstracts from the 55th European Society of Human Genetics Conference: Hybrid Posters

P01 Reproductive Genetics

P02 Prenatal Genetics

P03 Sensory Disorders (Eye, Ear, Pain)

P04 Internal Organs & Endocrinology (Lung, Kidney, Liver, Gastrointestinal)

P05 Skeletal, Connective Tissue, Ectodermal and Skin Disorders

P06 Cardiovascular Disorders

P07 Metabolic and Mitochondrial Disorders

P08 Immunology and Hematopoietic System

P09 Intellectual Disability

P10 Neurogenetic and Psychiatric Disorders

P11 Neuromuscular Disorders

P12 Multiple Malformation/Anomalies Syndromes

P13 Cancer Genetics

P14 Genome Variation and Architecture

P15 Cytogenetics

P16 New Technologies and Approaches

P17 Diagnostic Improvements and Quality Control

P18 Bioinformatics, Machine Learning and Statistical Methods

P19 Personalized Medicine and Pharmacogenomics

P20 Population Genetics and Evolutionary Genetics

P21 Functional Genomics and Epigenomics

P22 New Treatments for Genetic Disorders

P23 Genetic Counselling/Services/Education

P24 Ethical, Legal and Psychosocial Aspects in Genetics

P25 GWAS

P26 COVID-19