Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast. https://bsky.app/profile/carolinefwright.bsky.socialhttps://bsky.app/profile/carolinefwright.bsky.social/post/3mvmp7zqq4k2kGood advice! [contains quote post or other embedded content]16 Sep 2026 08:17 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3mvmp7zqq4k2khttps://bsky.app/profile/carolinefwright.bsky.social/post/3mvhwqiwsxk2hFunded PhD opportunity with me through the GW4 BioMed3 Doctoral Landscape Programme - exciting and potentially very impactful project: https://www.exeter.ac.uk/study/funding/award/?id=595314 Sep 2026 10:48 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3mvhwqiwsxk2hhttps://bsky.app/profile/carolinefwright.bsky.social/post/3mrpeilj47k2qNewborn 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/fwqpP28 Jul 2026 12:02 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3mrpeilj47k2qhttps://bsky.app/profile/carolinefwright.bsky.social/post/3mqjax5aqis2vAnother 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/frLiz13 Jul 2026 08:17 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3mqjax5aqis2vhttps://bsky.app/profile/carolinefwright.bsky.social/post/3momvtp35ck2eWhat'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. https://www.researchsquare.com/article/rs-9680068/v119 Jun 2026 08:19 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3momvtp35ck2ehttps://bsky.app/profile/carolinefwright.bsky.social/post/3mohue4agdk22Thanks 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!17 Jun 2026 08:09 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3mohue4agdk22https://bsky.app/profile/carolinefwright.bsky.social/post/3mofibwzvpk2s [contains quote post or other embedded content]16 Jun 2026 09:28 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3mofibwzvpk2shttps://bsky.app/profile/carolinefwright.bsky.social/post/3mo4kvctvuc27Exeter genomics out in force at #ESHG2026 in Gothenburg! Multiple talks and posters every day...12 Jun 2026 20:20 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3mo4kvctvuc27https://bsky.app/profile/carolinefwright.bsky.social/post/3mkiidlxi2c2oDr 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.social27 Apr 2026 16:26 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3mkiidlxi2c2ohttps://bsky.app/profile/carolinefwright.bsky.social/post/3mhv6mpr4jk2iReally 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. https://doi.org/10.1016/j.jhepr.2026.10178125 Mar 2026 13:21 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3mhv6mpr4jk2ihttps://bsky.app/profile/carolinefwright.bsky.social/post/3mgmvq7xk7k23Last 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, https://www.linkedin.com/jobs/view/4381711667/09 Mar 2026 12:55 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3mgmvq7xk7k23https://bsky.app/profile/carolinefwright.bsky.social/post/3meg7ekk3c22mSome 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... https://www.linkedin.com/jobs/view/436058876009 Feb 2026 10:09 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3meg7ekk3c22mhttps://bsky.app/profile/carolinefwright.bsky.social/post/3mdigmya4os2cSome 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.social28 Jan 2026 13:59 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3mdigmya4os2chttps://bsky.app/profile/carolinefwright.bsky.social/post/3m6yio62dlk2hNew 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: https://www.medrxiv.org/content/10.1101/2025.11.24.25340871v102 Dec 2025 08:12 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3m6yio62dlk2hhttps://bsky.app/profile/carolinefwright.bsky.social/post/3m6vzwfmcfk2pWhat 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, https://authors.elsevier.com/a/1mBYc3vlFV83BM01 Dec 2025 08:43 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3m6vzwfmcfk2phttps://bsky.app/profile/carolinefwright.bsky.social/post/3m4dd623p5s2mExcellent 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.social29 Oct 2025 11:17 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3m4dd623p5s2mhttps://bsky.app/profile/carolinefwright.bsky.social/post/3m3wvpol7dk2jNew 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. https://www.medrxiv.org/content/10.1101/2025.10.22.25338523v124 Oct 2025 12:45 +0000at://did:plc:262kxnsf377b2j2f7ibj4yse/app.bsky.feed.post/3m3wvpol7dk2j