iiinova — where your digital self keeps evolving

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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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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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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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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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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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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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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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 · 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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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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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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Caroline Wright @carolinefwright.bsky.social · 24/02/2025

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!

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Caroline Wright @carolinefwright.bsky.social · 05/02/2025

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!

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Caroline Wright @carolinefwright.bsky.social · 02/12/2024

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

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Caroline Wright @carolinefwright.bsky.social · 08/01/2024

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....

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