Newborn screening is incredibly important, but expanding it is not the only way to reduce the diagnostic odyssey in rare disease. Access to rapid diagnostic testing and research are also crucial... as we discuss in a new article in Nature Medicine rdcu.be/fwqpP

You can still register for, 'Unmasking the Genome: Integrating WGS, AI and Functional Genomics', from 1-4 September at the University of Exeter, UK. The workshop is for all researchers working at the leading edge of genomic science. 🧬 Get the programme and register now: tinyurl.com/4vbrp63p

Unmasking the Genome: Integrating WGS, AI and Functional Genomics - UK Human Functional Genomics Initiative

Unmasking the Genome is a four-day advanced workshop designed for researchers working at the leading edge of genomic science. This programme brings together expertise from Google DeepMind, leaders in ...

tinyurl.com

Another paper from the Exeter genomics team @nihrexeterbrc.bsky.social in the EJHG special issue on DNA screening: detecting SMN1/2 exon deletions using WGS data from ~490,000 people in UKB. Surprisingly accurate using a specialist variant caller, almost no false positives! rdcu.be/frLiz

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...

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!

James Fasham@jamesfasham.bsky.social · 2mo ago

🧬 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

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)

🧬 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

Exeter genomics out in force at #ESHG2026 in Gothenburg! Multiple talks and posters every day...

Dr Leigh Jackson speaking about evaluating penetrance in population cohorts at Genomics of Rare Disease #GRD26 - @exeter.ac.uk well represented here, with 3 talks and 6 posters! @nihrexeterbrc.bsky.social

Really pleased to be working with @lcpilling.bsky.social and others investigating haemochromatosis, a surprisingly common rare disease with high penetrance in older adults! Recent publication highlights the effect of polygenic score on penetrance of HFE p.C282Y homozygotes. doi.org/10.1016/j.jh...

Last few weeks to apply for one of these exciting openings in Exeter for clinical academics in genomic medicine (professor and senior lecturer). Ideal if you want to move to lovely Devon and augment our expanding team of geneticists... Closing date is 22 March, www.linkedin.com/jobs/view/43...

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 #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 #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

The American Journal of Human Genetics@ajhgnews.bsky.social · 8mo ago

📣New from @rdexeter.bsky.social 📄Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

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”

Genotype-level quality control substantially reduces error rates in population-scale whole-genome sequencing

Population-scale whole-genome sequencing data will contain many individual-level genotype errors, even after allele-level quality control (QC). We establish the need for genotype-level QC using UK Bio...

biorxiv.org

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...

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort

Osteogenesis imperfecta (OI) is under consideration for inclusion in several genomic newborn screening initiatives, but its penetrance in clinically-unselected populations is currently unknown. It is ...

medrxiv.org

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...

Jane Goodall’s legacy: three ways she changed science

The primatologist challenged what it meant to be a scientist.

nature.com

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...

Curiosity underlies a breakthrough in rare disease

We must recognise and protect the pipelines that lead from research to real-world benefit

ft.com