Abstracts from the 54th European Society of Human Genetics (ESHG) Conference.

Abstract

s from the 54th European Society of Human Genetics Conference: oral presentationsPlenary sessionsPL1 Opening PlenaryPL2 What’s New? Highlight SessionPL4 Mendel Award LectureConcurrent symposiaS01 Machine learning methods for prioritising genetic variantsS02 Spatial omicsS03 TransposonsS04 Impact of GDPR on genomic data sharingS05 Endogenous and exogenous mutagenesis in cancerS06 Comparative genomics across species and populationsS07 Mind the gap: Translating genomic advances into clinical careS08 Single cell genomics in cancerS09 Biobanks in under-represented populationsS10 Gene-based therapy for inherited liver diseasesS11 Prevention, detection, and therapy in cancerS12 Functional annotation of genomic variationS13 Beauty of gametogenesisS14 Genome architectureS15 Cells competing cells - mosaicism and cancerS16 ESHG-ASHG Building Bridges: Global genetics towards a socially just practiceS17 Biases in genetic studies: Estimation and impactS18 Overgrowth syndromes, from discovery to therapyS20 Counselling Over Various Informatic Devices: Lessons from Covid-19S21 Delivering the promise of RNA therapeuticsS22 Integrated approaches for ciliopathiesEducational sessionsE01 New technologiesE02 ESHG-Y: Human organoids as genetic disease modelsE03 Translational collaborations in hereditary cancerE04 Dealing with uncertainty in genomic medicineE05 Update on imprinting disordersE06 Pharmacogenomics in the clinicE08 Variant interpretation in the clinicE09 What’s new in preimplantation genetic testing?E11 Polygenic risks and meE12 Bayesian methods applied in clinical settingsE13 Mapping the human body at the cellular levelE14 DNA methylation in Mendelian diseasesE15 Selection and population structure in biobank scale dataE16 Advances in Mendelian randomisationE17 Chromosomal instability across lifetimeE18 Introduction to statistical analysis of genome-wide association studies (GWAS)E19 Precision medicine in underserved populationsConcurrent sessionsC01 Developmental disorders & syndromes IC02 Cardiovascular disordersC03 Bioinformatics, machine learning and statistical methodsC04 Unraveling the complexity of neuropsychiatric geneticsC05 Reproduction is hot!C06 COVID-19 GenomicsC07 Novel insights in inherited metabolic diseasesC08 Skeletal and connective tissue disordersC09 Sensory disorders: multi-omics and long-read sequencingC10 Genome-wide Association StudiesC11 New technologies and better diagnosticsC12 Counselling, communication and service deliveryC13 Cancer susceptibility: From mechanisms to clinicC14 Advances in neurogenetics: From diagnosis to treatmentC15 Pleiotropic diseases: diagnosis and mechanismsC16 Monogenic neurodevelopmental disordersC17 Population genetics and genetic epidemiologyC18 Functional genomics and transcriptomicsC19 ELSI in genomicsC20 From mechanisms to therapeutic insights in cancerC21 Clinical immunology and novel therapies of genetic diseasesC22 Developmental disorders & syndromes IIC23 Internal organs - Kidney, bowel, fatC24 Genome variation and architectureC25 Using genomics to personalise medicineC26 Late Breaking