Caroline Wright
@carolinefwright.bsky.social
Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast.
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
July 28, 2026 at 12:02 PM
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
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
rdcu.be/frLiz
July 13, 2026 at 8:17 AM
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
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...
June 19, 2026 at 8:19 AM
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!
June 17, 2026 at 8:09 AM
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!
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
April 27, 2026 at 4:26 PM
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...
March 25, 2026 at 1:21 PM
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...
March 9, 2026 at 12:56 PM
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...
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...
February 9, 2026 at 10:09 AM
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...
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
January 28, 2026 at 1:59 PM
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
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...
December 2, 2025 at 8:12 AM
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...
December 1, 2025 at 8:43 AM
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...
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
October 29, 2025 at 11:17 AM
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
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.
September 11, 2025 at 8:25 AM
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!
September 10, 2025 at 9:54 AM
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!
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)
May 27, 2025 at 6:23 AM
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)
May 26, 2025 at 10:18 AM
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
May 26, 2025 at 6:37 AM
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)
May 25, 2025 at 6:27 AM
At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social (Sunday 14:15, W10)
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...
April 3, 2025 at 12:24 PM
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...
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!
March 12, 2025 at 2:52 PM
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...
February 28, 2025 at 11:49 AM
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...
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!
February 24, 2025 at 7:30 PM
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!
February 5, 2025 at 11:12 AM
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!