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eshg.bsky.social
European Society of Human Genetics
@eshg.bsky.social
710 followers 50 following 130 posts
The ESHG is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims.
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eshg.bsky.social
📢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...
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.
www.nature.com
November 28, 2025 at 10:56 AM
eshg.bsky.social
🧬 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...
November 21, 2025 at 12:33 PM
eshg.bsky.social
🤝 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
congre.co.jp
November 18, 2025 at 6:30 AM
eshg.bsky.social
🕒 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...
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…
www.eshg.org
November 17, 2025 at 2:46 PM
eshg.bsky.social
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...
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.
www.nature.com
November 7, 2025 at 12:18 PM
eshg.bsky.social
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...
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),…
www.nature.com
November 4, 2025 at 3:06 PM
eshg.bsky.social
Re-watch your favourite sessions and presentations by on the #eshg2025 virtual platform until November 30th, 2025:
cattendee.abstractsonline.com/meeting/21105
November 3, 2025 at 11:28 AM
eshg.bsky.social
🌍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...
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…
www.nature.com
October 31, 2025 at 1:05 PM
eshg.bsky.social
📢 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...
ESHG: Covering The Gaps - The Course You Didn’t Know You Needed
Covering The Gaps
www.eshg.org
October 27, 2025 at 4:43 PM
Reposted by European Society of Human Genetics
eshgyoung.bsky.social
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
October 24, 2025 at 11:13 AM
Reposted by European Society of Human Genetics
eshgyoung.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
October 16, 2025 at 2:48 PM
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...
www.sciencedirect.com
October 16, 2025 at 11:22 AM
eshg.bsky.social
🧬 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
October 14, 2025 at 12:02 PM
eshg.bsky.social
🌍 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...
PheedLoop
PheedLoop: Hybrid, In-Person & Virtual Event Software
meetings.ashg.org
October 14, 2025 at 10:13 AM
eshg.bsky.social
🎥 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
ESHG Webinar Series Episode 5 with Serena Nik-Zainal
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…
youtu.be
October 9, 2025 at 1:40 PM
eshg.bsky.social
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...
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
www.nature.com
October 6, 2025 at 8:30 AM
eshg.bsky.social
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
October 2, 2025 at 2:45 PM
eshg.bsky.social
🧬 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...
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…
www.cell.com
September 25, 2025 at 6:02 PM
Reposted by European Society of Human Genetics
science.org
“This is an immensely exciting development for the Huntington’s field.” https://scim.ag/4nnW62z
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
scim.ag
September 24, 2025 at 10:10 PM
eshg.bsky.social
📢 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...
ESHG: Covering The Gaps - The Course You Didn’t Know You Needed
Covering The Gaps
www.eshg.org
September 24, 2025 at 1:11 PM
eshg.bsky.social
👥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...
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…
www.cell.com
September 23, 2025 at 5:30 AM
eshg.bsky.social
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...
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
www.nature.com
September 22, 2025 at 11:11 AM
eshg.bsky.social
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:
Farewell to Albert Schinzel, former President of ESHG
09/18/2025
www.eshg.org
September 18, 2025 at 2:30 PM
eshg.bsky.social
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
The European Certificate in Medical Genetics and Genomics (ECMGG) - European Journal of Human Genetics
European Journal of Human Genetics - The European Certificate in Medical Genetics and Genomics (ECMGG)
buff.ly
September 9, 2025 at 12:47 PM
eshg.bsky.social
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...
Leena Peltonen Prize 2026 – Submission of Nomination
forms.eshg.org
September 8, 2025 at 1:35 PM