Please forward this to any you know who could be interested! The incredible @drghawkes.bsky.social will be leading a course on analysis of genome sequence data, functional annotation of the genome, and using the very, very exciting AlphaGenome tool

If you are looking to learn about rare variant WGS analyses, AlphaGenome and lots more, come join us in Exeter next September. It’s going to be a great few days!

Genomic superstar @chundru.bsky.social taking on fake-news genotypes in >900k individuals. He shows allele-level filtering is rarely suffifient, and makes the brave choice to properly tackle chrX! We’ll be providing our filtered AoU WGS plink pgens for all registered users: watch this space

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”

Thank you to other co-authors @carolinefwright.bsky.social, @mnweedon.bsky.social, @timfrayling.bsky.social, and @drarwood.bsky.social, @nihrexeterbrc.bsky.social, biobanks @ukbiobank.bsky.social and All of Us, and all of the participants of the studies

Excited to announce the acceptance and publication of our paper titled “Population prevalence, penetrants, and mortality for genetically confirmed MODY” in JCEM: doi.org/10.1210/clin... #MODY #monogenicdiabetes

Population prevalence, penetrance, and mortality for genetically confirmed MODY: academic.oup.com/jcem/article...

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

🎉 New preprint out! "Removing genetic effects on plasma proteins enhances their utility as disease biomarkers" We show that adjusting plasma proteins for genetic effects can make them stronger predictors of disease 👉 doi.org/10.1101/2025...

RESEARCH | J Murray Leech, KA Patel et al. @exeter.ac.uk Polygenic risk for T2D modifies the onset and phenotypic variability of maturity-onset diabetes of the young (MODY) 🧪

I’m excited to share the 2 newest Neonatal diabetes genes: RNU4ATAC and RNU6ATAC. These genes encode snRNA components of the minor spliceosome and biallelic variants in them cause monogenic autoimmune diabetes. If you are at #EASD, come to Matt Johnson’s talk Tuesday @4pm in Milan hall to hear more.

Now out in @natmetabolism.nature.com! Excited to share our work showing how common genetic changes shape how diabetes presents in MODY (Maturity-Onset Diabetes of the Young). Our findings highlight the growing overlap between monogenic and polygenic forms of diabetes. www.nature.com/articles/s42...

Our paper is now out on Diabetes! diabetesjournals.org/diabetes/art...

New preprint out now! We show polygenic background shapes GCK-MODY clinical presentation. In >1,000 cases, higher polygenic risk increased the chance of exceeding diagnostic diabetes thresholds, highlighting how monogenic & polygenic factors jointly shape disease. #Genetics

🚨 Our parent-of-origin study is out in Nature! 🧬 Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss. 🔗 www.nature.com/articles/s41... Highlights below!

🚨Big news! Excited to share my first PhD paper!🎉 We validated & improved a T1D risk model using TrialNet data (originally from TEDDY), boosting accuracy 📈 bmcmedicine.biomedcentral.com/articles/10.... Try the web tool 👉 t1dpredictor.diabetesgenes.org #T1D #RiskPrediction #PrecisionMedicine #TrialNet

New Research: Non-autoimmune, insulin-deficient #diabetes in children and young adults in #Africa: evidence from the Young-Onset Diabetes in sub-Saharan Africa (YODA) cross-sectional study thelancet.com/journals/lan... #T1D #OpenAccess #MedSky #EndoSky

Really proud of this Exeter–Stanford collaboration identifying bi-allelic variants in PAX4 as a novel cause of transient neonatal diabetes—the first new genetic cause of this subtype described in over a decade. This work expands our understanding of beta cell development. 🔗 doi.org/10.1016/j.mo...

Population prevalence, penetrance, and mortality for genetically confirmed MODY https://www.medrxiv.org/content/10.1101/2025.06.30.25330354v1

Lausanne Comp Bio Symposium 2025 (cbiosymposium.unil.ch) 🗓 Abstract deadline 30 June (𝟑 𝐝𝐚𝐲𝐬 𝐭𝐨 𝐠𝐨!!!) 🎤 Oral presentation notifications: 7 July ✅ Early Bird registration deadline: 11 July 💰 Registration fee for non-PI: 150 CHF

MODY is prevalent in later onset diabetes. Really proud to announce the release of a preprint of our paper assessing MODY in people diagnosed with diabetes later in life!! #MonogenicDiabetes

Out today from #HectorOrtega & #SethASharp A state of the art review on polygenic risk scores (#PRS) in diabetes. This is your #101 on what we currently know about them and their application to understanding disease heterogeneity & clinical translation. Read for free here - rdcu.be/eprel

Excited to share the preprint of our paper (my first paper!) looking at limited evidence MODY genes. We use rare variant burden testing and one of the largest MODY cohorts to evaluate the pathogenicity of these genes. This evidence can help inform clinical guidelines in MODY genetic testing!

Congratulations @carolinefwright.bsky.social for being elected to a fellow of the Academy of Medical Sciences! 🍾! news.exeter.ac.uk/faculty-of-h... @nihrexeterbrc.bsky.social

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

Our new paper updating GRS2 with a new tool to easily generate standardised T1DGRS 🧬 Thanks to Seth Sharp, @annagloyn.bsky.social, Richard Oram and @mnweedon.bsky.social for a great collaboration! tinyurl.com/4bsaz9hx

"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...

There are fewer than 10 documented genetic causes of Transient Neonatal Diabetes (TNDM) and now PAX4 is one of them! Really proud of this collaborative work done between the Neonatal Diabetes Research Team at Exeter and the Translational Genomics of Diabetes Lab in Stanford.

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...

A really nice paper by @drghawkes.bsky.social et al. argues that rare and common genetic associations converge on the same genes. While this seems at odds with our recent work about how burden tests and GWAS prioritize different genes, our results agree (🧬🧪🧵 1/6) www.biorxiv.org/content/10.1...

Excited to be able to announce I’ll be starting a 5-year MRC Career Development Award fellowship next week on the 1st April at the University of Exeter! Lots of work to do on whole genomes, and I’m hoping to keep contributing my small piece!

New preprint! We worked with @msftresearch.bsky.social and @broadinstitute.org to see whether large language models (LLMs) can be useful to variant scientists in deciding whether genetic variants seen in a patient are responsible for their disease. tl;dr yes they can: www.biorxiv.org/content/10.1...

Exciting times for genomics research @exeter.ac.uk @nihrexeterbrc.bsky.social! 🧬 New preprint from the team: using large-scale WGS from @ukbiobank.bsky.social and All of Us shows convergence between rare and common genetic associations, with implications for genetic architecture of complex traits.

This was a really fun and exciting project to work on, and hopefully shows we're not near to exhausting population-scale WGS data. A great collaboration led by @mnweedon.bsky.social @drarwood.bsky.social and @carolinefwright.bsky.social , with @chundru.bsky.social and @rnbeaumont.bsky.social

5-drug precision prescribing for people with type 2 diabetes is here Our model for optimising glucose lowering therapy using low-cost routine clinical features published in the Lancet today Paper: thelancet.com/journals/lan... Try the web tool here: diabetesgenes.org/t2-treatment/

Millions of people with type 2 diabetes could receive better treatment thanks to a new, simple low-cost tool, according to groundbreaking research announced today at the Diabetes UK Professional Conference and published in the Lancet. 1/3

Exeter doing some great stuff with biobank scale WGS at the moment! Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations www.biorxiv.org/content/10.1...

Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations: tinyurl.com/ye2yhx9t

Excited to finally share that our paper looking at the effect of rare non-coding variants using WGS on circulating protein levels in the UKB has been released in Nature Genetics @naturegenet.bsky.social! We now analyse the full 3,000 circulating proteins in all 50,000 individuals rdcu.be/ea16i

We’re hiring! Looking for a motivated data scientist/bio-informatician to join our team analysing WGS across biobanks via meta analysis, with a focus on T2D and its related traits. Please get in touch if you’re interested! tinyurl.com/3wdfc2me

A great opportunity to join us in Exeter as a Lecturer in Health Data Science: tinyurl.com/2sy7w2y5. Please get in touch if you're interested!

Excited to see our paper on medRxiv "Streamlining Large-Scale Genomic Data Management: Insights from the UK Biobank Whole-Genome Sequencing Data". Paper here: www.medrxiv.org/content/10.1.... Tools here: github.com/drarwood/vcf....