Our new study defines a distinct #neurogenetic condition arising from recurrent structural variants at 16p13.3 palindrome. Individuals show progressive ataxia, cognitive decline, and a characteristic MRI pattern with caudate & cerebellar atrophy. #Genomics #RareDisease 🧵1/3

another great international collaboration with our friends in UK and Australia to which we could contribute, describing a very unique disease mechanism for a novel neurodegenerative disorder #genetics #raredisease @ajhgnews.bsky.social @jamesfasham.bsky.social @rdexeter.bsky.social

Our new study defines a distinct #neurogenetic condition arising from recurrent structural variants at 16p13.3 palindrome. Individuals show progressive ataxia, cognitive decline, and a characteristic MRI pattern with caudate & cerebellar atrophy. #Genomics #RareDisease 🧵1/3

Amicia Phillips challenging traditional definitions of 'actionability' in the context of genomic #newbornscreening #ICoNS25

Prof. Caroline Wright @UniofExeter explaining the challenges of quantifying penetrance of rare diseases in population cohorts at @ICoNSeqOrg #ICoNSs25 Beware ⚠️ - accidental inclusion of benign variants - relying on limited phenotype data / codes which may be erroneous

Alistair Pagnamenta: rlReduced OI penetrance in @uk_biobank, implications for genomic newborn screening at #ICoNS25. 🦴 majority with P/LP variants have do not have multiple fractures Impact on protein supported by proteomic data 👀 Preprint out today www.medrxiv.org/content/10.1...

At #ICoNS25 meeting in London the last 2 days (sorry for absence of livetweets!) Exploring the future of genomics as part of routine #NewbornScreening worldwide

I loved it once again! Thanks for everyone making #eshg2025 happen! #eshg2025 —> #eshg2026 Any suggestions for improvement ; ideas for topics and speakers? Await the formal survey by @eshg.bsky.social but you can also let me know personally: docs.google.com/document/d/1...

#MorbidGene (Test 2)

(Testing @diseasegenes.bsky.social) #MorbidGene

(just testing the new 🤖 @diseasegenes.bsky.social bot) #MorbidGene (please see it's page, I will need to preauthorise all posters on BlueSky, API issues 🙄)

Also many thanks for the incredible - and ever growing - presence of colleagues, friends and collaborators from down under at #eshg2025 with many thanks to your SPC delegates — what a team 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺

Our amazing variant curator @njhenden.bsky.social presenting at #ESHG2025 - homozygous variant in SECISBP2 causing a severe perinatal cardiomyopathy - expanding the phenotype spectrum of selenoprotein deficiency disorders @nataliepstewart.bsky.social @amybakerlms.bsky.social

Look forward to seeing you in Exeter Lein ☺️

#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!

Congratulations Jingzhan ☺️

Mathilde DOYARD #ESHG2025 Starting with information that TBXAS1 disorders ⬆️ bone density 💊Could it be a target to treat bone fragility disorders such as OI? thromboxane synthase (TXAS) inhibitors in 🐭 studies ⬆️ bone formation ⬆️ biomechanical profiles Patients next?

Edu Calpena #ESHG2025 @educalpena.bsky.social Ectopic SIX3 expression underlies the craniofacial syndrome caused by deletions at the SIX2 locus "Ectopic expression of SIX3 in the SIX2 territory" 2p21 deletions with TAD disruption shown below

Hristiana Lyubenova #ESHG2025 The absence of an enzyme-rescue metabolite as the cause of Catel-Manzke syndrome A deep dive into uncovering the mechanism of this well-recognised condition

James Ware. The majority of cardiomyopathy cases do not have an identified monogenic cause. #ESHG2025

James Ware introduced the term "recreational genomics" to refer to certain consumer genetic tests. And I love it. #ESHG2025

The two sessions on penetrance and expressivity were among my top favourite seesions this year. #ESHG2025

Current speaker Harry Wright in plenary session has been working in human genetics for 14 months. Another star in the making from the Exeter team #ESHG2025. Pointing out non coding aggregate signal in FGF18 for height, the gene has no coding signal (very constrained gene).

Already-risen Exeter star Gareth Hawkes @drghawkes.bsky.social following up with the latest master class in how to use WGS data, >1 billion variant based GWAS. They bypassed the WES era as didn't want to leave out 99% of the genome :-) #ESHG2025

Eike Bolmer #ESHG2025 🩻 Bone2Gene-Screen: AI-Augmented Early Detection of Rare Bone Diseases ✋Using hand x-ray 🔴 Occlusion testing allows important region within the image to be defined (see below)

Chofit Chai #ESHG2025 Loss of CELSR1 and impaired Wnt/planar cell polarity signaling cause yellow nail syndrome

Love today’s #xkcd comic on #MassSpec 🤣

Vicente Yepez #ESHG2025 Rare Disease multi-OMICs Solvathons - a disease solving hackathon - make sure you have consent to share Integrated multi-omics in parallel is best DNA-RNA & DNA-proteomic parallel approaches both ⬆️ diagnoses 10-15% (many refs)

👏Thanks to our panel You *were* the workshop ☺️ ESHG2025

🖼️ Best view in the meeting is from the Speaker Centre

Don’t forget to upload your slides to the system! You’ll get a QR code instantly, and the whole process is super seamless, done in under 5 minutes. Bonus: you get to enjoy the view while you wait. #ESHG2025

@deciphergenomics.bsky.social ☺️

So basically, not behaving like this is twitter

Last day of #ESHG25 #ESHG2025, make sure to catch two fantastic back-to-back talks from @hls.exeter.ac.uk @drghawkes.bsky.social describing whole genome association analysis and meta-analysis across >500,000 people (Tuesday 11:15 & 11:30, C32)

#ESHG2025 now on in Gold: always wonderful to listen to Kym Boycott and the evolution of gene discovery #raredisease

Kym Boycott #ESHG2025 Disease-Gene discoveries are falling 😲 Don't tell @DiseaseGenes bot! 🤖 #MorbidGene In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of gene pleiotropy

Kym Boycott #ESHG2025 What is matchmaking One? Two? Zero? sided Why do we do it (see the photo below ☺️) 👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange ❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better

Another great Exeter talk from @jingzhan.bsky.social today at 11:30

11:30 Tuesday @Space1+2, come and join my talk with C34.03- combining the GRS/PRS🧬 and PSA🩸test results together to predict the prostate cancer #eshg2025

👀 well worth watching back if you missed it

This was great! Thanks to speakers, the panel and the audience who all contributed their experiences and insights

Join us for social media workshop #eshg2025

#ESHG2025 Sequencing square @jamesfasham.bsky.social @aleenamolbio.bsky.social (virtually) running a workshop on the use of Social Media in Science; asking the question: "Has social media broken scientific knowledge sharing?" Join to find out more! #Socialmedia #Science #Genomics

Farewell @eshg.bsky.social #eshg2025 That conference was superb - sorry to miss the last day but needs must. The science in the conference has improved by orders of magnitude over the last decade.

Great to have you here @nickywhiffin.bsky.social! Safe travels ☺️

So proud of this great team from Sheffield Diagnostic Genetics Service sharing some our work at #ESHG2025 with 8 posters accepted across Rare Disease, Cancer and Bioinformatics 👏🧬🙌🤩 #NHS #genomics #STP

Mirjam Plantinga #ESHG2025 Ethical, Legal and Social Implications of reanalysis - a review ❓What does reanalysis mean? (See slide) Differentiate - Reanalysis, Reinterpretation, Reclassification Reanalysis of what? Cost effective?

#ESHG2025 day 3 Prof Zornitza Stark presenting interesting data using Talos, an open source automated tool, in large scale genomic data reanalysis: • 86% of known in scope diagnoses • >250 new diagnoses from a cohort of 4,735 undiagnosed cases • ~ 30% from new gene-disease relationships

👀@geneticbill.bsky.social has entered the building! #ESHG2025

Zornitza Stark @zornitza.bsky.social #ESGH2025 🤖 TALOS automatically and iteratively re-reviews genomes and exomes (including CNVs/SV on historic data) focus on specificity - only 0.7 candidates /trio Diagnostic yield is 5%, 248/4,744 - higher in older cases 9% 2019 4% 2022