iiinova — where your digital self keeps evolving

Reposted by Caroline Wright

deciphergenomics.bsky.social @deciphergenomics.bsky.social · 18/09/2026

Are you a skilled and highly motivated Bioinformatics Developer looking for a new opportunity? Join the DECIPHER team - gain knowledge of clinical genomics and improved web development skills while creating tools to facilitate genomic medicine. embl.wd103.myworkdayjobs.com/EMBL/job/Hin...

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Caroline Wright @carolinefwright.bsky.social · 28/07/2026

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

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Reposted by Caroline Wright

Atlas of Variant Effects Alliance @varianteffect.bsky.social · 20/07/2026

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

tinyurl.com

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 ...

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Caroline Wright @carolinefwright.bsky.social · 13/07/2026

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

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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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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 Caroline Wright

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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Reposted by Caroline Wright

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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Caroline Wright @carolinefwright.bsky.social · 12/06/2026

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

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Caroline Wright @carolinefwright.bsky.social · 27/04/2026

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

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Caroline Wright @carolinefwright.bsky.social · 25/03/2026

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...

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Caroline Wright @carolinefwright.bsky.social · 09/03/2026

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...

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Reposted by Caroline Wright

deciphergenomics.bsky.social @deciphergenomics.bsky.social · 27/02/2026

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

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Caroline Wright @carolinefwright.bsky.social · 09/02/2026

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...

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Reposted by Caroline Wright

Harry Wright @hiwwright.bsky.social · 06/02/2026

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...

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Caroline Wright @carolinefwright.bsky.social · 28/01/2026

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

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Reposted by Caroline Wright

Stefan Barakat @stefanbarakat.bsky.social · 06/12/2025

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

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Caroline Wright @carolinefwright.bsky.social · 02/12/2025

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...

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Caroline Wright @carolinefwright.bsky.social · 01/12/2025

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...

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Reposted by Caroline Wright

Kartik Chundru @chundru.bsky.social · 08/11/2025

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”

biorxiv.org

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...

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Caroline Wright @carolinefwright.bsky.social · 29/10/2025

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

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Reposted by Caroline Wright

James Fasham @jamesfasham.bsky.social · 24/10/2025

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...

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Caroline Wright @carolinefwright.bsky.social · 24/10/2025

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...

medrxiv.org

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 ...

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Reposted by Caroline Wright

Luke Pilling @lcpilling.bsky.social · 16/09/2025

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...

View of the River Exe running through the Quay in sunny Exeter.

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Reposted by Caroline Wright

Patrick Goymer @patrickgoymer.bsky.social · 02/10/2025

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...

nature.com

Jane Goodall’s legacy: three ways she changed science

The primatologist challenged what it meant to be a scientist.

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Caroline Wright @carolinefwright.bsky.social · 11/09/2025

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.

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Caroline Wright @carolinefwright.bsky.social · 10/09/2025

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!

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Caroline Wright @carolinefwright.bsky.social · 29/05/2025

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...

ft.com

Curiosity underlies a breakthrough in rare disease

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

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Caroline Wright @carolinefwright.bsky.social · 28/05/2025

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!

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Caroline Wright @carolinefwright.bsky.social · 27/05/2025

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.

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Caroline Wright @carolinefwright.bsky.social · 27/05/2025

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)

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Caroline Wright @carolinefwright.bsky.social · 26/05/2025

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)

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Caroline Wright @carolinefwright.bsky.social · 26/05/2025

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

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Caroline Wright @carolinefwright.bsky.social · 25/05/2025

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

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Reposted by Caroline Wright

Dr Gareth Hawkes @drghawkes.bsky.social · 23/05/2025

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

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Reposted by Caroline Wright

helenvfirth.bsky.social @helenvfirth.bsky.social · 07/05/2025

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

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Caroline Wright @carolinefwright.bsky.social · 01/05/2025

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

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Caroline Wright @carolinefwright.bsky.social · 10/04/2025

"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...

consilience-journal.com

Proband — Consilience

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Reposted by Caroline Wright

Jonathan Roberts @jonroberts.bsky.social · 03/04/2025

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...

open.substack.com

Genetics, objectivity and a defence of DEI

Genetics, both past and present, demonstrates a simple fact. DEI makes our science better.

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Caroline Wright @carolinefwright.bsky.social · 03/04/2025

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...

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Reposted by Caroline Wright

Daniel MacArthur @dgmacarthur.bsky.social · 18/03/2025

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.

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Reposted by Caroline Wright

Randall Munroe @xkcd.com · 17/03/2025

Lungfish xkcd.com/3064

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Caroline Wright @carolinefwright.bsky.social · 12/03/2025

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!

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Caroline Wright @carolinefwright.bsky.social · 28/02/2025

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...

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