European Society of Human Genetics

Collaborative science in genomics: The value of data sharing and thoughtful stewardship Large-scale data sharing is indispensable for advancing human genetics and genomics (HGG) research and medicine. The willingness of study participants and researchers to share data has been the…

📊Large-scale data sharing is indispensable for human genetics & genomics. ASHG calls for a broad data-sharing ethos and responsible stewardship that protects participants while enabling collaboration.
#HumanGenetics #OpenScience

www.cell.com/ajhg/fulltex...

Proteome-wide model for human disease genetics - Nature Genetics popEVE is a proteome-wide deep generative model to identify and predict pathogenicity of missense mutations causing genetic disorders.

📢Paper alert!
Read about popEVE, a deep generative model that ranks missense variants by deleteriousness across the proteome, by combining evolutionary and population data. It flags novel genes and can identify causal variants even in singleton exomes.

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

🧬 Episode 8 of the ESHG Webinar Series is coming up on Nov 26, 2025 at 16:00 CET!
Lisenka Vissers (Radboudumc, NL) will speak on translating long-read genome sequencing into clinical applications for rare diseases.
Free via Zoom – registration required.
wma.eventsair.com/eshg-webinar...

🤝 We’re delighted to partner with the Japanese & American societies for the joint symposium “Genetics and Genomics Surrounding Newborn Screening” on Dec 19 at the 70th JSHG Annual Meeting in Yokohama.
Programme: congre.co.jp/jshg2025/en/program.html

ESHG: ESHG Observership Programme The ESHG coordinates the “ESHG Observership for Young Geneticists” which is an important educational initiative that offers support each year for 5 young human geneticists who wish to observe…

🕒 Last call!
Applications for the 2026 ESHG Mentorship & Observership Programmes close Nov 30, 2025.
Funding available for training visits in genetics 🌍🧬
Apply now & share with interested colleagues!

www.eshg.org/education/es...
www.eshg.org/education/es...

Live imaging of late-stage preimplantation human embryos reveals de novo mitotic errors - Nature Biotechnology A method to label cultured human embryos finds chromosome segregation errors in placenta-fated cells.

New study in Nature Biotech reveals most mitotic errors in human embryos occur in the placenta-precursor cells, not the inner cell mass that forms the fetus. 🧬
Findings could reshape how IVF clinics interpret PGT-A results.
#IVF #Embryology #Biotech
www.nature.com/articles/s41...

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database - Nature Communications Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD),…

New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬
A big step for precision medicine!
www.nature.com/articles/s41...

Re-watch your favourite sessions and presentations by on the #eshg2025 virtual platform until November 30th, 2025:
cattendee.abstractsonline.com/meeting/21105

A genetic map of human metabolism across the allele frequency spectrum - Nature Genetics Genome-wide association analyses of 249 circulating small molecules and lipoprotein characteristics across the allele frequency spectrum in UK Biobank advance understanding of genes and pathways…

🌍New in Nature Genetics: A large-scale, data-driven genetic map of human metabolism was generated by integrating common and rare allelic variation with 249 metabolic traits from ~450k UK Biobank participants across three ancestry groups.

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

ESHG: Covering The Gaps - The Course You Didn’t Know You Needed Covering The Gaps

📢 Don’t miss Covering The Gaps – The Course You Didn’t Know You Needed!

Explore overlooked but crucial topics in genetics: ethics, quality, data sharing & more.

🗓️ Online | Nov 27–28, 2025
💶 €100 | 🎓 15 CME credits
⚠️ Limited spots available!

👉 Register now: www.eshg.org/covering-the...

Want to rewatch sessions from #ESHG2025 Milan?
You can access all conference content until Nov 30, 23:59 CET from any device.
👉 cattendee.abstractsonline.com/meeting/21105

📹 After Nov 30, plenary & educational sessions will be on the ESHG YouTube channel

@eshg.bsky.social

📢 Join the @jacksonlab.bsky.social, the African Society of Human Genetics and @eshgyoung.bsky.social for our 2025 webinar series

🧬 Cell Modeling and Engineering for Rare Diseases 🧫
📅 Nov 5, 6, 12, 13
🕒 8–10 AM EST| 1–3 PM UTC| 3–5 PM CAT/EET

Register here: tinyurl.com/z9kkhw55

@eshg.bsky.social

👥Out from ClinGen: The Severe Combined Immunodeficiency Disease (SCID) Variant Curation Expert Panel has just released adapted ACMG/AMP variant interpretation guidelines for the 7 most common SCID-related genes.

Full guidelines:
www.sciencedirect.com/science/arti...

🧬 The #ESHG team is at #ASHG2025 in Boston this week!
Visit us at booth #1339 to say hi and learn more about our work. 👋
#Genetics #Genomics

🌍 Can’t make it to #ASHG2025 in Boston?
Join GenomeCast — the live simulcast of select sessions! 🎥✨
Enjoy groundbreaking science, live Q&A, and e-posters — all from wherever you are.

🔗 More information: meetings.ashg.org/event/ASHG25...

Recent advances in mutational signatures and clinical applications Mutational signatures are patterns of mutations that arise in DNA because of the processes that are occurring within a cell, in… ESHG Webinar Series Episode 5 with Serena Nik-Zainal

🎥 The recording of #ESHG Webinar Series – Episode 6 with Serena Nik-Zainal is now online!

🧬 “Recent advances in mutational signatures and clinical applications”

Watch the full talk here 👉 youtu.be/_Up1IGmEiN8
#Genetics #Genomics #MutationalSignatures #eshgWebinar

N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder - European Journal of Human Genetics European Journal of Human Genetics - N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder

Just published in @ejhg-journal.bsky.social:
🧬CACNB1 N-terminal variants cause a novel congenital muscular disorder. Long-read transcriptomics in human myotubes provides detailed profiling of CACNB1 muscle isoforms.

Full paper:
www.nature.com/articles/s41...

Inherited eye diseases cause early-onset vision loss, yet many cases remain unsolved due to missing heritability. On Oct 29, discover how multi-omics can boost diagnosis and reveal new therapeutic opportunities. www.eshg.org/webinarseries
#MultiOmics #Ophthalmology
@elfridedebaere.bsky.social

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders Heterozygous de novo variants in the splicing factor SF1 cause a neurodevelopmental disorder with variable severity and autistic traits. Functional studies reveal that SF1 deficiency disrupts gene…

🧬 Featured in AJHG: Heterozygous variants in splicing factor SF1 cause a novel neurodevelopmental disorder. Functional work using NPCs shows SF1 downregulation alters gene expression and alternative splicing, adding SF1 dysfunction to spliceosomopathies.

www.cell.com/ajhg/abstrac...

In a first, a gene therapy seems to slow Huntington disease Small study suggests uniQure drug could be first successful treatment for devastating brain disorder

“This is an immensely exciting development for the Huntington’s field.” https://scim.ag/4nnW62z

ESHG: Covering The Gaps - The Course You Didn’t Know You Needed Covering The Gaps

📢 Register now for Covering The Gaps – The Course You Didn’t Know You Needed.
Addressing overlooked issues like ethics, quality & integrity

🗓️ Online, Nov 27–28, 2025
✅ Accredited with 15 CME credits
⚠️ Limited spots available

Learn more & register: www.eshg.org/covering-the...

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants The HBOP VCEP developed PALB2-specific ACMG/AMP variant interpretation guidelines by tailoring, limiting, or removing existing codes. Testing on 39 pilot variants improved concordance with ClinVar…

👥New from ClinGen: The Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel has released PALB2-specific ACMG/AMP variant interpretation guidelines for accurate classification of PALB2 germline sequence variants.
Full guidelines: www.cell.com/ajhg/fulltex...

PIGC-related encephalopathy: Lessons learned from 18 new probands - European Journal of Human Genetics European Journal of Human Genetics - PIGC-related encephalopathy: Lessons learned from 18 new probands

Out in @ejhg-journal.bsky.social 📢
Delineation of clinical and biomolecular characteristics of the largest cohort harboring biallelic PIGC variants:
🧪18 cases
🧠severe NDD, refractory seizures, premature death
🧬impaired GPI-AP biosynthesis

Read more:
www.nature.com/articles/s41...

Farewell to Albert Schinzel, former President of ESHG 09/18/2025

We are deeply saddened by the passing of Albert Schinzel (1944–2025), former ESHG President and pioneer in clinical cytogenetics. His legacy includes the Catalogue of Unbalanced Chromosome Aberrations in Man and the Goldrain Course.

Read more:

Published in @ejhg-journal.bsky.social:

1️⃣ European Certificate in Medical Genetics & Genomics (ECMGG): buff.ly/CUpaOWd

2️⃣ European Training Requirements for Medical Genetics (ETR-MG): buff.ly/DgCPtde

Leena Peltonen Prize 2026 – Submission of Nomination

Nominations are open for the Leena Peltonen Prize 2026 (€10,000).

candidates: outstanding young researchers, Early career stage, no age or graduation limit
Awardee will give the Leena Peltonen Lecture at #eshg2026 in Gothenburg.

📅 Deadline: 31 Oct 2025
🔗 forms.eshg.org/leena-pelton...

📢 Episode 6 of the #ESHG Webinar Series: September 24 at 16:00 CEST
🧬 Speaker: Serena Nik-Zainal: "Recent advances in mutational signatures and clinical applications"
💻 Registration is free but required: buff.ly/P6WD5jB
📩 Past registrants will receive the Zoom link automatically.

Proposed SRY test to determine athletes’ sex should be treated with caution In the light of recent controversy about eligibility for male and female categories in sport, the International Olympic Committee has decided to set up a working group to look at gender eligibility…

The ESHG calls for caution regarding the proposed use of the SRY gene test in sport. Eligibility rules must acknowledge biological complexity, allow for exceptions, and ensure proper athlete support. Read the full statement:

ESHG: ESHG Mentorship Programme The International Mentorship Program is a professional development and education program for early-career physicians, researchers, counsellors, nurses, diagnostic scientists and allied health…

🚀 Applications are now open for the ESHG Mentorship & Observership Programmes!
For young geneticists from economically-developing countries: gain international experience & support for lab/department visits. Deadline: Nov 30, 2025.
🔗https://www.eshg.org/education/eshg-mentorship-programme

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders - European Journal of Human Genetics European Journal of Human Genetics - Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

Published in EJHG Journal:
📊 DNAmethylation signatures support VUS reclassification and complement negative genetic tests. This approach boosts diagnostic yield in neurodevelopmental disorders, proving its clinical utility in routine diagnostics. ✅

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