European Society of Human Genetics

From Chromatinopathies to Episignatures Chromatin enables packaging of DNA into nuclei and is critical for many biological processes ranging from gene expression to cell division. Chromatin… ESHG Webinar Series Episode 5 with Siddharth Banka

📺 The recording of Episode 5 of the #ESHG Webinar Series "From Chromatinopathies to Episignatures" by Siddharth Banka (Manchester Rare Conditions Centre,
@mft-imrare.bsky.social) is now on YouTube! Watch here: youtu.be/GMgWiGXq6mc?...

Structural variation in 1,019 diverse humans based on long-read sequencing - Nature Intermediate-coverage long-read sequencing in 1,019 diverse humans from the 1000 Genomes Project, representing 26 populations, enables the generation of comprehensive population-scale structural…

🌍 New in Nature: Long-read sequencing of 1019 genomes reveals structural variant (SV) diversity across 26 human populations, providing a global resource for understanding genetic variation and its link to human disease.
#Genomics #Pangenome #SVs

www.nature.com/articles/s41...

Multiplexed assays of variant effect for clinical variant interpretation - Nature Reviews Genetics Multiplexed assays of variant effect (MAVEs) are highly scalable experimental approaches used to generate functional data for genetic variants. In this Review, McEwen et al. discuss the advances in…

🧬Multiplexed Assays of Variant Effect (MAVEs) generate functional data for thousands of variants in a single experiment, accelerating VUS reclassification and improving patient care.
#MAVEs #Genomics

Explore the latest advances in MAVE technologies:
www.nature.com/articles/s41...

Genetic and genomic knowledge is key in today’s clinical practice.
Explore 3 free, online courses on the ESHG Xpeer Channel - covering rare diseases, hereditary cancer, and prenatal screening.
📚 Start learning now: buff.ly/GciCCGE
#Genetics #Genomics #MedicalEducation #Xpeer #ESHG

📢 Episode 5 of the #ESHG Webinar Series is on Wednesday, July 30 at 16:00 CEST!
🧬 Speaker: Siddharth Banka: "From Chromatinopathies to Episignatures"
💻 Registration is free but required: wma.eventsair.com/eshg-webinar...
📩 Past registrants will receive the Zoom link automatically.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization - European Journal of Human Genetics European Journal of Human Genetics - Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

New in @ejhg-journal.bsky.social 📢

Comprehensive phenotypic and genotypic characterization of CNOT3-related neurodevelopmental disorders #NDDs:
🧬 51 patients from 42 families
🔍 28 novel variants
📍 Missense variants clustered in key functional domains

www.nature.com/articles/s41...

ESHG welcomes forthcoming consultations on Greek newborn screening programme Statement from ESHG

ESHG welcomes forthcoming consultations on Greek newborn screening programme. On this topic, the EJHG has opened a call for papers on the use of genetic data in public health screening programmes. Read the full ESHG statement here: tinyurl.com/m8bp6m4m

@ejhg-journal.bsky.social is now actively sharing updates, publications, and announcements on Bluesky.
If you haven’t connected with them yet, we’d love to invite you to follow the account.

📊A semi-automated mtDNA-filtering pipeline combined with MitoPhen-based HPO phenotype similarity scoring was applied to a large cohort of undiagnosed rare disease patients, increasing the diagnostic yield by 0.4%.
#SolveRD #mtDNA #RareDisease

Read more:
www.cell.com/ajhg/fulltex...

Today, the Scientific Programme Committee wrapped a fantastic and exciting programme for #eshg2026 conference! More information will available on our conference website soon. We look forward to welcoming you in Gothenburg!

Episode 4 of the ESHG Webinar Series is now available on YouTube!
Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease.

📺 Watch the recording: youtu.be/pWhienkM6L4?...

#Genomics #RareDisease #VariantInterpretation #ESHG

Eye2Gene Contact us if you require access!

Introducing Eye2Gene: a deep-learning model trained on multimodal retinal imaging (FAF, IR, OCT) to predict causative genes among 63 candidates for inherited retinal diseases, supporting diagnosis and variant prioritization.
👉 app.eye2gene.com

www.nature.com/articles/s42...

📢 Episode 4 of the #eshg Webinar Series is on June 25 at 16:00 CEST!
🧬 Speaker: Kaitlin Samocha on variant interpretation using population data
💻 Registration is free but mandatory: wma.eventsair.com/eshg-webinar...
📩 Past registrants will receive the Zoom link automatically.

ESHG: 2025 Press Releases The news that the Greek government has entrusted newborn screening to private organisations raises many concerns. Newborn screening is a vital public health initiative, and significant efforts are…

The Greek government’s decision to delegate newborn screening to private organisations without prior public consultation raises concerns about transparency and ethical oversight. Read the full ESHG statement for details: www.eshg.org/news-home/fo... #NewbornScreening #PublicHealth #eshg

Artificial intelligence in clinical genetics - European Journal of Human Genetics European Journal of Human Genetics - Artificial intelligence in clinical genetics

🚀 AI is reshaping clinical genetics! This latest review by Duong & Solomon outlines how machine learning, deep learning, and generative AI are transforming diagnostics, management, lab workflows, and administrative processes

🔗 Open-access review👇

www.nature.com/articles/s41...

ESHG 2025 Milan, Italy May 24–27, 2025 © European Society of Human Genetics - Pictures by Chris Rausch

Still thinking about #eshg2025. Browse through the most vibrant moments of the conference in our photo gallery: www.flickr.com/photos/19719...

ESHG: Education Committee - EduCom The ESHG Education Committee (EduComm) is seeking new members.

The ESHG Education Committee is seeking new members!

🎓Join us in shaping the future of genomics education through mentorship, collaboration, and high-quality training initiatives.

Application deadline: July 20, 2025
Start date: September 1, 2025
Apply: www.eshg.org/educom

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci - European Journal of Human Genetics European Journal of Human Genetics - Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

📢Out in @ejhg-journal.bsky.social‬
Bi-allelic inactivating variants in ZNF142 are associated with a specific DNA methylation signature. This robust signature offers a promising epi-diagnostic tool for ZNF142 neurodevelopmental cases.
#NDDs #DNAm #Episignature

www.nature.com/articles/s41...

Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants - Nature Human Behaviour Fridman, Khazeeva et al. show associations of reproductive phenotypes and educational attainment in heterozygotic carriers of pathogenic variants associated with recessive conditions.

🧠 New Insights on reproductive and cognitive phenotypes in carriers of recessive pathogenic variants.

This research highlights how even being a carrier of variants in genes associated with ID may impact cognitive development and academic outcomes.

www.nature.com/articles/s41...

#CognitiveScience

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes - Nature Genetics Genomic analyses focused on regions that form R-loops identify rare mutations in RNU2-2 and RNU5B-1 in individuals with neurodevelopmental disorders.

New research investigates de novo variants in R-loop forming regions across large-scale genomic datasets identifying RNU2-2 and RNU5B-1 as novel #NDDs genes. Together with RNU4-2, these explain a high number of previously unsolved NDDs cases.
#snRNAs

www.nature.com/articles/s41...

#eshg2025 it’s a wrap! We hope you enjoyed this year’s #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2026 in Gothenburg!

Since 2018, the European Society of Human Genetics has been presenting the ELPAG Award. It is presented to honour a scientist having made an important mark in the field of Ethical, Legal and Psychosocial Aspects of Genetics.

#ESHG2025 ELPAG Award laureate:
Sylvia Metcalfe (Melbourne, Australia)

DNA Day 2025 - Essay Contest
1st Place: Snigdha Rai (IN)
2nd Place: Mei Bejdo (AL)
3rd Place: Basak Memiguven (TR)

ESHG DNA Day 2025 - Video Contest
1st Place: Tanush Gupta (UK)
1st Place: Dakyung Yoon (KR)
3rd Place: Jaime Chan (UK)

#ESHG2025

ESHG Observership scheme awardees 2025
• Purvi Majethia India to Manchester, UK
• Luiza Lorena Pires Ramos Belgium to Stockholm, Sweden
• Juliana Miranda Cerqueira Finland to Cambridge, UK
• Vanessa Sousa Portugal to Leuven, Belgium
• Sílvia Pires Portugal to Jena, Germany

#ESHG2025

Tune in at 15:25 CEST to meet this year’s winners of the Gert Jan Van Ommen Citation Awards presented by EJHG Journal, the Early Career Award Winners, the Dian Donnai & Jill Clayton-Smith Award Winners and the #eshg DNA Day Winners 2025!

ESHG Mentorship scheme awardees 2025
• Nesibe Bulut Turkey to Vienna, Austria
• Tea Mladenić Croatia to Jena, Germany
• Melda Erdoğdu Turkey to Linköping, Sweden
• Lein Dofash Australia to Exeter, UK
• Daniela Oliveira Portugal to Stockholm, Sweden

#ESHG2025

#ESHG2025 Dian Donnai and Jill Clayton-Smith Prize for Dysmorphology 2025

Winner: Emre Akbas, Eskisehir, Turkey

SHG2025 ELPAG Early Career Award
for the best presentation on Ethical, Legal and Psychosocial Aspects of Genetics

Tara Maria Hoffmann, Hamburg, Germany

"Identity Crisis and Emotional Strain in Parents of Children with Rare and Undiagnosed Conditions: A Qualitative Study"

#ESHG2025 Mia Neri Award
for best presentation in cancer research.

Jingzhan Lu,Exeter, United Kingdom

"Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"

#ESHG2025 Vienna Medical Academy Award:
Best presentation in translational genetic reserach/therapy of genetic diseases.

Christina Marie Kajba, London, UK

"A pooled prime editing platform in haploid human cells for high throughput variant screening"