iiinova — where your digital self keeps evolving

Reposted by James Fasham

European Society of Human Genetics @eshg.bsky.social · 06/10/2026

New recommendations on returning secondary genomic findings to research participants, including polygenic risk scores and pharmacogenomics. The focus is also on equity, community engagement and the practicalities of returning results at scale 🧬. www.nature.com/articles/s41...

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James Fasham @jamesfasham.bsky.social · 06/08/2026

I remember doing this a few years ago, a great course!

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Reposted by James Fasham

European Society of Human Genetics @eshg.bsky.social · 04/08/2026

🧬 New studies show how SVs downstream of FOXG1 can disrupt its regulation and contribute to a FOXG1-like NDD. Together, they reveal distinct regulatory loci and provide new insight into the locus’s 3D organisation. 👉https://buff.ly/UVhWtWk 👉https://buff.ly/Nvidv1E

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European Society of Human Genetics @eshg.bsky.social · 05/08/2026

🧬 Publication from ERN GENTURIS: cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome 🔗 Guideline: www.genturis.eu/l=eng/guidel... 📄 Paper in EJHG: www.nature.com/articles/s41... 🎧 Genturis Genes Podcast: www.linkedin.com/posts/ern-ge...

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Reposted by James Fasham

European Society of Human Genetics @eshg.bsky.social · 06/08/2026

Genomic newborn screening could enable earlier diagnosis - but it may also create uncertainty, overdiagnosis and pressure on healthcare resources. A new Comment considers how to balance benefits and harms while strengthening diagnostic services. 👉 www.nature.com/articles/s41...

nature.com

Reducing the diagnostic odyssey in rare disease: why screening is not the only answer - Nature Medicine

The timely detection of rare diseases is crucial, and using a range of approaches will be key to reducing the diagnostic odyssey.

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James Fasham @jamesfasham.bsky.social · 16/07/2026

DECIPHER continues to be actively developed Your feedback will help the team understand users’ experiences and identify possible improvements. Ive just done it, it takes less than 5 mins!

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Reposted by James Fasham

Caroline Wright @carolinefwright.bsky.social · 19/06/2026

What's the difference between MANE Select and MANE Plus Clinical transcripts? We systematically compare all 65 genes with both using @genomebrowser.bsky.social and @ensembl.org, highlighting implications for genomic diagnostics. www.researchsquare.com/article/rs-9...

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Reposted by James Fasham

Caroline Wright @carolinefwright.bsky.social · 17/06/2026

Thanks for a fantastic conference #ESHG2026! An intense few days of science and socialising, very inspiring and great to see friends from around the world. Proud of Team Exeter too, for presenting exciting science with huge translational impact whilst also supporting each other and having fun!

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Reposted by James Fasham

European Society of Human Genetics @eshg.bsky.social · 16/06/2026

#eshg2026 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 #eshg2027 in Rotterdam!

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Reposted by James Fasham

Ewan Birney @ewanbirney.bsky.social · 16/06/2026

It is really interesting to chart the increase in sophistication and depth in the rare disease community as we bring forward the "genotype early" or even "genotype first" diagnosis pathways, where as "genotype late" was the more common approach >>>

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James Fasham @jamesfasham.bsky.social · 13/06/2026

Caroline Wright (Exeter) sharing fundamental knowledge What does the "average" human genome look like?" >900k 🧬 #UKB / #AllofUs / Genome: 1️⃣ ~4.4–5.5 million variants 2️⃣ 2–3 ClinVar P/LP (mostly AR) 3️⃣ ~62–70 de novo variants 4️⃣ ~1 in 5 people in top 1% of PRS for ≥1 disease

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James Fasham @jamesfasham.bsky.social · 14/06/2026

Great to see how well received this has been here and on X #eshg2026! Paper has been submitted so watch this space 👀

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Reposted by James Fasham

James Fasham @jamesfasham.bsky.social · 14/06/2026

🧬 Missense ≠ not splice. Mwenda Rintari (Exeter) show that ~2–3% of missense variants may disrupt splicing Analysis of 8.3M variants found protein effects approaching loss-of-function variants & several candidate diagnoses in unsolved patients. #ESHG2026

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Reposted by James Fasham

Zornitza Stark @zornitza.bsky.social · 16/06/2026

Brilliant ESHG Award Lecture by @tuuliel.bsky.social @eshg.bsky.social #eshg2026 highlighting the importance of building communal resources #genomics #openscience 👏👏👏

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James Fasham @jamesfasham.bsky.social · 16/06/2026

Sadly I'm not sure I can ♥️ a brownie that didn't obviously contain chocolate...

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Reposted by James Fasham

Nelson Martins @nelsonm1224.bsky.social · 16/06/2026

Excited for the plenary session! #eshg2026

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R-Synapse @ruhrsynapse.bsky.social · 16/06/2026

#eshg2026 Time for the 2026 Award lectures! 🏅 • ELPAG Award Anne Cambon-Thomsen • ESHG Awardee Tuuli Lappalainen • Mendel Lecture by Guillaume Canaud

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James Fasham @jamesfasham.bsky.social · 16/06/2026

☺️ Probably more than this highly clinically-focused study can inform, but it does raise questions about the mechanism underpinning variable expressivity

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Reposted by James Fasham

European Journal of Human Genetics @ejhg-journal.bsky.social · 16/06/2026

🚨Special Issue for #ESHG2026: “DNA in public health screening programmes” @eshg.bsky.social 🔹What should we screen for and report? 🔹What about uncertainty and harms? 🔹How can we deliver equitably and at scale? #Genomics #Screening #NewbornScreening 🔗 www.nature.com/collections/...

nature.com

DNA in public health screening programmes

The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health ...

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James Fasham @jamesfasham.bsky.social · 16/06/2026

🧠Containing my own work on apparent penetrance TSC1/TSC2 in population biobanks published just in time for #ESHG2026 springernature.eu.qualtrics.com/jfe/form/SV_...

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James Fasham @jamesfasham.bsky.social · 16/06/2026

🧬 Leigh Jackson (Exeter) presents multiple papers (see EJHG Special Issue ☝️ ) #ESHG2026 Penetrance of TSC, PCD, OI & RB1 across ~900,000 individuals Careful variant & phenotype curation matters In clinically unselected populations, disease risk can be ⬇️ than traditional estimates. #Genomics

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James Fasham @jamesfasham.bsky.social · 16/06/2026

Danny Cohn (Amsterdam UMC) 💊 Permanent prekallikrein silencing using in vivo CRISPR-Cas9 for hereditary angioedema Phase 3 trial: 87% ⬇️ in attacks vs placebo 62% attack & therapy-free over 6 months. 📄 Hot off the press in time for #ESHG2026! www.nejm.org/doi/full/10....

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Reposted by James Fasham

European Society of Human Genetics @eshg.bsky.social · 16/06/2026

🎉 What a fantastic evening at the #eshg2026 Networking Event at World of Volvo! A special highlight was the The Telomerays band formed by geneticists, who once again rocked the stage and kept the dance floor buzzing throughout the evening! 🎸🎤 📸 Mikael Göthage/Bildbyrån

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James Fasham @jamesfasham.bsky.social · 16/06/2026

An interventional geneticist in the 21st century? 😂 #eshg2026

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James Fasham @jamesfasham.bsky.social · 16/06/2026

Rebecca Ahrens-Nicklas (CHOP) 💊 First-in-human personalised base editing for CPS1 deficiency Bespoke adenine base editor delivered by liver-targeted LNPs designed, manufactured, tested & given under expanded access within months of birth. pubmed.ncbi.nlm.nih.gov/40373211 #ESHG2026

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Reposted by James Fasham

European Society of Human Genetics @eshg.bsky.social · 15/06/2026

Heading to the ESHG Networking Event at Volvo World? Don’t forget to bring your badge as your ticket is directly saved on the QR Code! If you have booked an Accompanying Ticket, please come to check-in with your guest, as the additional ticket information is also stored directly on the badge.

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Reposted by James Fasham

R-Synapse @ruhrsynapse.bsky.social · 15/06/2026

#eshg2026 E. Dixon and I were wondering: how many science + runner folks are currently in Gothenburg to organize a spontaneous run? 👟 🏅 Everyone welcome, open to all paces

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Reposted by James Fasham

Sarah Wynn @sarahlwynn.bsky.social · 15/06/2026

We were delighted to share this wonderful collaboration with the Julia Garnham Centre (JGC), Sheffield Children's NHS Foundation Trust and The University of Sheffield, aimed at increasing the number of Unique guides. Find them on our Disorder Guides page: rarechromo.org/disorder-gui...

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Reposted by James Fasham

R-Synapse @ruhrsynapse.bsky.social · 15/06/2026

#eshg2026 Day 3: Science communicators @jamesfasham.bsky.social, @aleenamolbio.bsky.social, @tomwrightuom.bsky.social share current knowledge and own behind-the-scenes tour of #scicom in #genetics

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James Fasham @jamesfasham.bsky.social · 15/06/2026

Im a little late to the party (this is beauty of catch up 🔁 ) 🧬 Fabrice Lejeune's explanation of nonsense-mediated mRNA decay has been my favourite educational talk of #ESHG2026 so far. Important topic for understanding how genetic variants contribute, or don't contribute, to rare disease.

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James Fasham @jamesfasham.bsky.social · 15/06/2026

I'll get us started with Exeter in beautiful Devon in the UK. Undesputed home of picturesque granite blocks.

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Reposted by James Fasham

European Society of Human Genetics @eshg.bsky.social · 15/06/2026

Let's celebrate the diversity at #eshg2026. Show us your country's hidden gem! Reply with a photo of your favourite place, food, or anything you are proud of. Look at the map below to see where participants this year are from.

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Reposted by James Fasham

R-Synapse @ruhrsynapse.bsky.social · 15/06/2026

#eshg2026 @claucarvalho.bsky.social presenting new discoveries of large inversions in the genome in neurodevelopmental disorders, e.g. Coffin-Siris Syndrome complex rearrangement of ARID1B region #genetics #neuroscience

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James Fasham @jamesfasham.bsky.social · 15/06/2026

Just catching up on @deciphergenomics.bsky.social❤️ in the NMD session at #ESHG2026 Francisca Millan "I would like to start with this wonderful overview that DECIPHER provides. Per-gene, it summarizes all the gene-disease associations ... in different databases." (I assist DECIPHER, unpaid role)

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R-Synapse @ruhrsynapse.bsky.social · 15/06/2026

#eshg2026 Long-read session: Adam Phillippy, @johnshopkins Univ reporting on clinical effects of large DNA events, focusing on acrocentric regions that aren't resolved in e.g. Hg38 ref genome. #genetics

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James Fasham @jamesfasham.bsky.social · 14/06/2026

🧬 Suzi Walker, Genomics England Can RNAseq help solve more rare disease cases? RNAseq from 7,841 participants in the 100kgp Abberant splicing confirmed in >50% of known case - limited by expression in blood Also new candidate variants identified #ESHG2026

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James Fasham @jamesfasham.bsky.social · 14/06/2026

🧬 Precomputed SpliceAI may need updating Reubena Dawes (Oxford) Updating transcript models and extending splice prediction distance (500bp) rescued 30 additional candidate splice variants in 7,221 NDD cases from the 100kGP, ⬆️ diagnostic splice findings by 11.7%. #ESHG2026

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James Fasham @jamesfasham.bsky.social · 14/06/2026

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James Fasham @jamesfasham.bsky.social · 14/06/2026

🖼️ P25.064.D They're here! New approach to creating high-quality patient information at scale. Sheffield & Unique working with students, clinicians, families & AI Develop expert-reviewed guides for rare genetic conditions. #ESHG2026 📖 rarechromo.org/disorder-gui...

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Reposted by James Fasham

Nelson Martins @nelsonm1224.bsky.social · 14/06/2026

Amazing talk from Juliane Glaser about how Tranposable Elements insertion leads to limb phenotype in some mice strands and not in others! #eshg2026

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James Fasham @jamesfasham.bsky.social · 14/06/2026

I had the same realisation. It's actually really intuitive when we consider there are now 20+ such relevant scores...

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James Fasham @jamesfasham.bsky.social · 14/06/2026

🪑 backup chairs have arrived ☺️ #eshg2026

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James Fasham @jamesfasham.bsky.social · 14/06/2026

🗨️ Enjoying updates from @ruhrsynapse.bsky.social at #ESHG2026, if you're not following maybe check him out!

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James Fasham @jamesfasham.bsky.social · 14/06/2026

Standing room only! 🪑 John McDermott introducing pharmacogenomics and population health at Sequencing Square 💊 Katie Snape now speaking on the UK genomic ecosystem and the Adults programme 👵 #eshg2026

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Mohamed Wafik @mo-wafik.bsky.social · 14/06/2026

🧬 #eshg2026 interesting session on ethics & equity in genomics publishing: 👥 Involving citizens in publishing genomics research ✍️ Editorial experiences of negative author behaviours 🌏 Inclusivity & indigenous populations in genomics publishing 🔒 Privacy concerns ⚕️Reproductive health equity

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James Fasham @jamesfasham.bsky.social · 14/06/2026

🇬🇧 🇮🇹 🇹🇷 🇩🇪 ☺️

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Reposted by James Fasham

Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

J Veltman. De novo mutations in male infertility. - Monogenic forms of male infertility are largely underexplored and underused in diagnosis - Cohort of 303 patient-parent trios - De novo mutations found in recurrent genes - Enrichment of spliceosome-related genes in pathway analysis #eshg2026

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