Tuesday, June 14

Room: Hall A
Chairs: Elfride De Baere and Lila Allou

S23.1 Small RNAs regulate the duration of epigenetic inheritance

Oded Rechavi;
Israel

S23.2 Non-coding RNAs in genetic disease and as target of therapy

Sandro Banfi;
Italy

S23.3 RNA atlas expanding the catalog of human non-coding RNAs

Pieter Mestdagh;
Belgium

Room: Hall D
Chairs: Karoline Kuchenbäcker

S24.1 Polygenic prediction of metabolic traits in continental Africa

Segun Fatumo;
United Kingdom

S24.2 Breast Cancer Polygenic Risk Scores for diverse Asian populations

Weang-kee Ho;
Malaysia

S24.3 Polygenic risk prediction in multi-ancestry populations

Tamar Sofer;
United States

Room: Hall E1
Chairs: Aurora Pujol

S25.1 Multiomics for mitochondrial disease diagnostics

Holger Prokisch;
Germany

S25.2 Epigenomics for stratification of Cancer and Covid

Manel Esteller
Spain

S25.3 Transcript expression-aware annotation for improved diagnostics

Beryl Cummings;
United States

Room: Hall F1
Chairs: Edward Dove and Andres Metspalu

S26.1 Federation of genomic medicine databases: Concept and practice

Adrian Thorogood;
Luxembourg

S26.2 Federation of genomic medicine databases: A bioinformatics perspective

Melissa Cline
United States

S26.3 Federation of genomic medicine databases: A modern archivist perspective

Jordi Rambla;
Spain

Room: Hall E2
Chairs: Barbara Rivera

E14.1 My Code: Looking beyond the lamppost: the “genome-first” approach to disease prevalence, penetrance, and phenotype

Douglas Stewart;
United States

E14.2 Personalized medicine in Spain: The IMPACT strategy

Marina Pollán;
Spain

Room: Hall F2
Chairs: Matti Pirinen

E15.1 An invitation to a multiple testing party (and why multiple testing in genomics is an opportunity, not a burden)

Matthew Stephens;
United States

E15.2 How to predict phenotypes from genome information?

Bjarni Vilhjálmsson;
Denmark

Room: Hall A
Chairs: Jasmin Blatterer and Carla Oliveira

C24.1 WGS of Basal Cell Carcinoma of skin reveals distinct mutational landscape and the role of HIPPO-YAP pathway in disease progression
Sergey NIKOLAEV, France

C24.2 Functional classification of nearly all possible SNVs in VHL using Saturation Genome Editing
Megan BUCKLEY*, United Kingdom

C24.3 Alterations at the CDH1/CDH3 loci regulatory architecture as a mechanism for E- to P-cadherin switch and gastric cancer distant metastases
Celina SÃO JOSÉ*, Portugal

C24.4 How protein expression links somatic mutations to tumor phenotypes in chronic lymphocytic leukemia
Fabienne MEIER-ABT*, Switzerland

C24.5 Single cell transcriptomics of Pituitary Neuro-Endocrine Tumors (PitNETs)
Maxime BRUNNER*, Switzerland

C24.6 Investigating breast cancer cellular complexity and cell communication by single-cell transcriptomics of tumor organoids
Paride PELUCCHI, Italy

Room: Hall D
Chairs: Yasemin Alanay and Miguel Xavier

C25.1 Large-scale analyses of X-chromosomal variants in 2,354 patients with spermatogenic failure reveals recurrently affected novel candidate genes
Antoni RIERA-ESCAMILLA, Spain

C25.2 Exome sequencing of azoospermic and severe oligozoospermic men identifies novel recessive monogenic causes of human male infertility
Samuel CHEERS*, Australia

C25.3 Scrutinizing the human TEX genes in the context of human male infertility
Margot Julia WYRWOLL, Germany

C25.4 Bi-allelic variants in genes related to piRNA biogenesis are a major cause for male infertility
Birgit STALLMEYER, Germany

C25.5 Single-cell evaluation of DNA damage in offspring after prenatal exposure to chemotherapy
Ilana STRUYS*, Belgium

C25.6 An Israeli expanded preconception screening panel – findings and insights
Adi RECHES, Israel

Room: Hall E1
Chairs: Christine Fauth and Lore Pottie

C26.1 FOXI3 pathogenic variants cause one form of craniofacial microsomia
Stylianos ANTONARAKIS, Switzerland

C26.2 Bi-allelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
Rachel OH, Canada

C26.3 Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
Joseph LESLIE*, United Kingdom

C26.4 OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral-spectrum
Tristan CELSE*, France

C26.5 Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies
Stijn VAN DE SOMPELE*, Belgium

C26.6 Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Gijs VAN HAAFTEN, Netherlands

Room: Hall E2
Chairs: Lude Franke

C27.1 Multi-ancestry meta-analysis of genome-wide association studies of lung function and variant-to-gene-mapping undercover hundreds of novel implicated genes and loci
Abril IZQUIERDO, United Kingdom

C27.2 Non-additive outlier effects of gene expression on anthropometric traits
Théo DUPUIS*, United Kingdom

C27.3 Optical genome mapping for repeat expansion disorder testing
Kornelia NEVELING, Netherlands

C27.4 Shared structural variant mutagenesis mechanisms in cancer and the constitutional genome
Christopher GROCHOWSKI*, United States

C27.5 Manually curated annotation of uORFs in the OMIM genes reveals pathogenic variants in 5`UTRs
Alexandra FILATOVA, Russian Federation

C27.6 Benchmarking structural variant callers in the human genome
Uira MELO, Germany

Room: Hall F1
Chairs: Ingo Kurth and James Fasham

C28.1 PIK3C2B germline heterozygous mutations cause defective lipid signaling and focal epilepsy
Sara BALDASSARI, France

C28.2 CAPRIN1 haploinsufficiency causes an autosomal dominant neurodevelopmental disorder with defects in hiPSCs-derived neurons and an identifiable episignature in patients.
Lisa PAVINATO*, Italy

C28.3 De novo variants in the PABP-domain of PABPC1 lead to developmental delay
Meret WEGLER*, Germany

C28.4 CLEC16A mislocalization and impaired interactions with retromer complex components underly a severe recessive neurodevelopmental disorder
Daphne SMITS*, Netherlands

C28.5 Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy
Anju SHUKLA, India

C28.6 Recessive PRDM13 mutations cause severe brainstem dysfunction with perinatal lethality, cerebellar hypoplasia and disrupt Purkinje cell differentiation
Vincent CANTAGREL, France

Room: Hall F2
Chairs: Sérgio Sousa and Eva D’haene

C29.1 The contribution of common regulatory and protein-coding TYR variants in the genetic architecture of albinism
Panagiotis SERGOUNIOTIS, United Kingdom

C29.2 Identification and characterization of a novel retina-specific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease
Alfredo DUEÑAS REY*, Belgium

C29.3 Whole genome sequencing for USH2A-associated disease reveals several treatable pathogenic deep-intronic variants
Janine REURINK*, Netherlands

C29.4 Patient-derived Retinal Organoid as a Disease Model for Adult-Onset Retinitis Pigmentosa 1
Patricia BERBER*, Germany

C29.5 Genetic deletion of Sarm1 confers functional protection in an in vivo mouse model of retinal ganglion cell degeneration
Laura FINNEGAN*, Ireland

C29.6 Implication of a non-coding variation of FOXE3 in an individual displaying a complex microphthalmia
Julie PLAISANCIÉ, France

Room: Hall A
Chairs: Borut Peterlin and Alexandre Reymond

PL4.1 Mendel Lecture

Jay Shendure;
United States

Room: Hall A
Chairs: Borut Peterlin and Alexandre Reymond

PL5.1 ESHG Award Lecture

Aarno Palotie;
Finland

Room: Hall A

EJHG-SN Citation Awards

ESHG Early Career Awards

European DNA Day Contest

Closing Address