This #RareDiseaseDay we’re highlighting how data sharing supports diagnosis, research & families living with rare conditions. Watch to find out how access to rare disease data can help families better understand their children’s conditions. @uniquecharity.bsky.social @geneticallianceuk.bsky.social

Do you want to connect with global rare disease specialists? 🧬 Join us on the Wellcome Genome Campus, UK, for Genomics of Rare Disease 2026. #GRD26 🗓️ 27-29 April Register by 30 March for an in-person place 📩 Celebrate 20 years' of rare research! 📎 bit.ly/48UIeZ2#GRD26#AcademicSky #RareDiseaseDay

Some exciting openings in Exeter for clinical academics (professor and senior lecturer). Come and shape the future of translational genomic medical research in the South West! Lovely place to work, lovely people to work with, and freedom to pursue great science... www.linkedin.com/jobs/view/43...

Excited to share my first preprint on federated conditional analysis of rare single variant and aggregate association tests across six genetically-inferred ancestry groups in All of Us and UK Biobank doi.org/10.64898/202...

Submit your abstract to present at Genomics of Rare Disease by 16 February ⏰ #GRD26 Share your genomics-led insights, build your research profile, and gain feedback from leaders🧬 Join global speakers for an exciting 20th anniversary programme. 🗓️ 27-29 April 2026 📎 bit.ly/48UIeZ2#GRD26#AcademicSky

Some important new DECIPHER features released by @deciphergenomics.bsky.social today, including a new management/therapies tab, and links to single gene disorder guides from @uniquecharity.bsky.social

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

New machine learning method for automated extraction of gene-disease relationships from the literature using @gene2phenotype.bsky.social - should make future curation much faster, easier and more comprehensive, see preprint: www.medrxiv.org/content/10.1...

What do we mean by "actionability" in genomic medicine? An important question as we think more about using genomes for screening as well as diagnosis... read our new paper @gimjournal.bsky.social, authors.elsevier.com/a/1mBYc3vlFV...

New paper on everyone’s favourite topic, QC! We show why you should do genotype-level QC on your WGS data www.biorxiv.org/content/10.1... Very real quotes about this paper - “The most exciting, mind-blowing paper of the year!” “On a par with Fisher 1918” “I read it every night. Just so beautiful”

Excellent autumnal away-day by the seaside with the Exeter genomics teams, organised by @drghawkes.bsky.social, discussing improvements to our whole genome sequence annotation and burden-testing pipelines - lots more exciting science to come! @exeter.ac.uk @nihrexeterbrc.bsky.social

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...

New pre-print on population penetrance - the first of a set exploring specific gene-disease pairs under consideration for genomic newborn screening. Spoiler alert: careful curation is essential, but penetrance is lower in population than clinical cohorts. www.medrxiv.org/content/10.1...

Post-doc opportunity in Exeter 🌟 studying genetic modifiers of haemochromatosis 🩸 Closing date 30 Oct! Come and work with a interdisciplinary team of epidemiologists, clinicians, and statistical geneticists, in a beautiful city in the South West of England ❤️ jobs.exeter.ac.uk/hrpr_webrecr...

As we mourn Jane Goodall, this @nature.com article explores three ways in which she changed science: 1. Altering the way we view both other primates and ourselves 2. Inspiring generations of women scientists 3. Communicating science in a way that engaged the public www.nature.com/articles/d41...

Super-simple application of pathogenicity evidence during variant assessment in @deciphergenomics.bsky.social - even for complicated PVS1 in multiexon deletions where the frame is preserved - confirming a likely diagnosis.

Very cool new feature in @deciphergenomics.bsky.social - direct link from any missense variant to ProtVar @ebi.embl.org. This variant is in the binding site and likely interacts with the ligand, predicted using AlphaFold with AlphaFill!

Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social www.ft.com/content/25dd...

Pretty excited about giving Talos a try in the NHS @rdexeter.bsky.social‬. We should definitely be doing regular reanalysis of existing genome-wide sequencing data, just need the right tools!

So agree with this - Alphafold models are really fantastic for genomics researchers because they make mapping genetic variants so much simpler! But high-resolution experimental protein structures still offer important extra detail and accuracy, particularly for complexes, ligands, PTMs, etc.

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)

OK, I'm starting to get #ESHG25 FOMO now! Those of you who are there should check out a poster from our group @hls.exeter.ac.uk investigating penetrance of variants in TSC1 & TSC2, with implications for newborn genome screening.(P15.033.D - pop by for a chat Monday 4-5pm)

At #ESHG25, make sure to hear the fantastic @chundru.bsky.social speak about characterizing genome-wide de novo mutations in control populations versus rare disease cases (Monday 11:15, C29), part of the work we're doing in paradigmgenomics.org

At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social‬ (Sunday 14:15, W10)

Got a big showing of talented University of Exeter scientists with talks and posters at ESHG25 in Milan. Come along and find out more! @hls.exeter.ac.uk @exeter.ac.uk #ESHG25 @jamesfasham.bsky.social @jingzhan.bsky.social @ambermluckett.bsky.social @chundru.bsky.social @harrygreentkd.bsky.social

🤗 Hugely excited to share our work on automating iterative reanalysis in #raredisease, preprint out: www.medrxiv.org/content/10.1... 🤖🧬 github.com/populationge... A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!

Fascinating insights into embryonic life from a very productive collaboration between DECIPHER and MuzHaniffa and her talented team @mhaniffa.bsky.social

⬇️ again. I feel the need to re-post this point pretty much every week! Benign variants are not low penetrance.

"Remember that it's not only scientists that read your papers" - sage advice from author of a beautiful poem 'Proband', which began life as a response to our DDD NEJM paper, linking genomic science and its patients. www.consilience-journal.com/issue-17-pro...

A new post by me where I argue that genetics, both past and present, demonstrates a simple fact. DEI makes our science better. open.substack.com/pub/jonathan...

Come and work with us - 2 Graduate Research Assistant positions available in genomic medicine, with a particular focus on variant interpretation and data analysis. Part of the Wellcome-funded PARADIGM project, and based in beautiful Exeter UK! jobs.exeter.ac.uk/hrpr_webrecr...

This is sad not just for genomics in the US, but across the world: Eric has been an incredibly effective global champion for the power of genomics and the impact of genomic medicine.

Lungfish xkcd.com/3064

Excellent trip to Sheffield for the UK Clinical Genetics Society Conference and National Dysmorphology Meeting. Lots of new ideas, lovely catching up with colleagues, and a bonus weekend walking in the sunny Peak District!

Some very moving stories in "More than you can imagine: an anthology of rare experiences", compiled by Genetic Alliance UK to mark #RareDiseaseDay 2025, geneticalliance.org.uk/campaigns-an...

Nice #RareDiseaseDay blog from @mehurles.bsky.social outlining the importance of genetics and genomics in rare disease for discovery, diagnosis and treatment.

Fantastically useful clinically-curated resource of structured monogenic gene-disease associations, including inheritance and disease mechanisms.

Exciting times for genomics research @exeter.ac.uk @nihrexeterbrc.bsky.social! 🧬 New preprint from the team: using large-scale WGS from @ukbiobank.bsky.social and All of Us shows convergence between rare and common genetic associations, with implications for genetic architecture of complex traits.

Fascinating day @cpmoxford.bsky.social yesterday discussing genome sequencing in newborn screening. Lots of complexities, loads of new ideas, and lovely to see so many colleagues! Thanks @alucassen.bsky.social @rachel-horton.bsky.social and all the organisers.

My favourite figure from this paper: unlike coding variants, rare non-coding variants are almost equally likely to increase or decrease circulating protein levels. Thanks to @ukbiobank.bsky.social for genomic and proteomic data!

Fabulous few days at the 9th biannual course on Clinical Genomics: Fundamentals of Variant Interpretation 🧬 #ClinicalGen25 @eventswcs.bsky.social. Some great discussions and plenty of food for thought!

Looking forward to some interesting discussions about newborn genome screening at this @cpmoxford.bsky.social event next month!

I'm delighted to announce that the Pharma Proteomics Project will commence full-scale proteomic profiling of the UK Biobank in 2025. We have selected the Olink Proteomics Explore HT platform and Ultima Genomics UG 100 sequencers for this unprecedented study. www.ukbiobank.ac.uk/learn-more-a...

Registration is now open for our Curating the Clinical Genome Conference! #CCG2025 🗓️Dates: 11 - 13 June 2025 If you are interested in shaping best practices for the clinical use of #GenomicsData, then this is the conference for you! 🧬 🗣️ Keynote: @heidirehm.bsky.social 📎Info: bit.ly/4gt4EB6

Protein predictive scores which predict the likelihood that the protein is associated with a dominant-negative, gain-of-function or loss-of-function mechanism are displayed. Curated literature support for a molecular disease mechanism is also shown jmarshlab.bsky.social @mbadonyi.bsky.social

Trump and Musk are in the White House. They both employ the language of genetic determinism. I've written about this what means for genetics and how we can respond www.theguardian.com/commentisfre...

jobs.exeter.ac.uk/hrpr_webrecr... Interested in data management? Want a permanent position working in beautiful Devon and work collaboratively to support the work of lots of genomics team? Apply!!

New work on penetrance of incidentally identified pathogenic RET variants, led by Kash Patel. Key findings: (1) Moderate-risk mutations are predominant in this context; (2) the risk of thyroid cancer is lower for population versus clinical ascertainment. www.medrxiv.org/content/10.1...

Finally, the DDD outcomes paper is fully published - it took many people and many years, but we definitely had an impact on patient care! Genetic diagnoses changed management for >28% of patients, and connected families with support groups, key resources, and reproductive counseling bit.ly/3Zy0Dpq

Want to join our brilliant genomics teams at the @uniofexeter.bsky.social? Deadline 11th January for an array of exciting roles! Find out more here - medicine.exeter.ac.uk/clinical-bio....