Nice end to the week - another paper out! Lovely work from Robin Beaumont looking at clustering of predicted loss-of-function variants in UK Biobank; explains incomplete penetrance in some dev disorder genes. genomemedicine.biomedcentral.com/articles/10.11…

We are hosting the South of England Genetic Epidemiology Group (SEGEG) meeting at the University of Exeter on July 1st! Registration is free and now open - forms.office.com/e/tengc4eKLk

Join us in Exeter on the 1st July for some great talks at this years South of England Genetic Epidemiology Group (SEGEG) meeting. Sign up for free registration here: forms.office.com/e/tengc4eKLk

Thrilled to share our latest preprint ‘An atlas of expressed transcripts in the prenatal and postnatal human cortex’. (1/) Jonathan Mill University of Exeter Faculty of Health & Life Sci Research at Exeter biorxiv.org/content/10.110…

Kartik Chundru : Many novel coding regions identified are translated and funcional. Two potential pathogenic variants found in novel coding regions of known developmental disease genes. Preprint: doi.org/10.1101/2024.0… #eshg2024

#ASHG24 Friendly annual reminder that you can waive ASHG's $50 abstract submission fee if you have a ASHG membership.

Exeter Complex Traits Genomics team Exeter Med School arrive in Geneva for whole genome sequencing meeting. There’s a lot of cheese in those fondues!

Functional genomics meets genotype phenotype mapping in rare & common disease in Geneva : thanks to many incl. Caroline Wright Kartik Chundru Gareth Hawkes Health 2030 Genome Center Lauric Ferrat Liza Darrous Rosie Bamford Robin Beaumont

What an evening in North Cornwall😀. Imagine working somewhere with this on your doorstep. University of Exeter Faculty of Health & Life Sci currently recruiting for genomics and data science faculty posts. jobs.exeter.ac.uk/hrpr_webrecrui…. Please RT.

Excited to speak about our work on Whole Genome Sequences and HbA1c at #ADA2024 at 1:30pm!

Excited to talk about impact of common variants in monogenic diabetes at #ADA2024 -thanks for the invite American Diabetes Association - DiabetesPro . I will share some new data. Come and join in W207 at 3:15

Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in Nature Genetics - including top 10 tips for avoiding errors! Link to paper doi.org/10.1038/s41588… and full PDF rdcu.be/dPjsd

Exciting opportunity to work with state-of-the-art data, in a world-leading research team (on the south coast!), working towards alleviating suffering from a devastating heritable disease Please contact myself or one of the other supervisors if you’d like to chat!

🚨POSITION AVAILABLE! 🚨We have an education focused Lecturer in #Neuroscience post available in Exeter Med School. We're particularly interested with people in with experience in cognitive neuroscience and/or coding skills #jobopportunities. jobs.exeter.ac.uk/hrpr_webrecrui…

Exciting oppurtunity to do a PhD in big data and metabolic health with supervisor dream team Caroline Wright Aimee Hanson and Inês Barroso working with the University of Exeter Faculty of Health & Life Sci and University of Bristol in the beautiful south west! Please get in touch and share! gw4biomed.ac.uk/understanding-…

New research has found 4 genes with some of the largest known effects on timing of #menopause, providing new insight into links between menopause timing and #cancer risk. news.exeter.ac.uk/faculty-of-hea…