Additive effect of carrying multiple rare variants in monogenic DDG2P genes and common variant polygenic score for educational attainment in UK Biobank. Lovely work from former PhD student Becca Kingdom with Mike Weedon Exeter Med School Nature Genetics
doi.org/10.1038/s41588…

📢Academic Trainees
👩‍⚕️in Clinical Genetics
🧬Come to Exeter!

Applications for NIHR Research ACF & ACL posts open now on Oriel for July / Aug 2024 start

Applications close Tues 23rd April
(See following tweet for application links)

I did an ACF and PhD here, happy for DMs

Love genetics? Love diabetes research? Come join the party Exeter SGGD 2024!!

Honoured to be giving this lecture on penetrance Centre for Personalised Medicine, Oxford later this month (though a teensy bit intimidated by the amazing previous lecturers!). Looking forward to interesting discussions while I'm visiting.

Exome sequencing is as good as microarrays for finding pathogenic copy number variants! Evidence is very clear from DDD study & supports replacing current 2-step diagnostic process with single genome-wide sequencing approach for dev disorders.
news.exeter.ac.uk/faculty-of-hea…

Fabulous trip Down Under at Lorne LorneGenomeConferenc and visiting Prof Zornitza Stark Melbourne Genomics Health Alliance et al in Melbourne and A/Prof Jodie Ingles Daniel MacArthur et al in Sydney - thanks for being such great hosts! Also found time for sun, sea and hiking😀

Using large scale genomic data from DDD, exome sequencing based #CNV calling demonstrates superior quality comparable to exon-level CMA in detecting pathogenic CNVs bit.ly/49AVorR Petr Danecek Eugene Gardner Matt Hurles #GIMO #CopyNumberVariation #exomesequencing #raredisease

Just one more sleep until #RareDiseaseDay2024 which this is celebrated on 29 February this rare leap year! 🗓️ Faster diagnosis, better coordinated care, more awareness among health professionals, and access to treatment would improve the lives of millions ⁦Genetic Alliance UK⁩

🤗 Absolutely thrilled to see our #AcuteCare ⁦Australian Genomics⁩ work featured ⁦nature⁩ together with ⁦ExeterGenomes⁩ ⁦Rady Genomics⁩ ⁦euan ashley⁩ 🧬⏱️🤗 nature.com/articles/d4158…

A new sequence variant ACMG /AMP pathogenicity interface is now available providing predictions for the application of criteria. Users must use their expert knowledge of the variant and patient to decide if a prediction is valid for a criteria, and if relevant, accept it.

Join us in beautiful Exeter for the SGGD meeting this April! A great opportunity to hear about the latest in #genetics of #diabetes and related conditions. Just under 2 weeks left before abstract deadline! Travel & carers awards available diabetesgenes.org/sggd-exeter-20… diabetesgenes

We have a number of exciting opportunities in Genetics, Genomics and Data Science Research at University of Exeter with faculty and postdoctoral positions available at all levels.

Find out more about joining our fantastic team here - medicine.exeter.ac.uk/clinical-biome…

Delighted to see this publication from former PhD student Adam Gunning Exeter Med School ExeterGenomes, showing the value of aggregating data across paralogous protein domains in variant classification link.springer.com/article/10.118…

Today in the The Lancet, we UK geneticists argue: 'Population screening requires robust evidence—genomics is no exception'
Anneke Lucassen, Helen Firth, Bill Newman, Caroline Wright, Margaret McCartney, @wilkie_lab, Robin Lachmann,TomlinsonGroup,Lucy Raymond authors.elsevier.com/a/1iD4W_3CjG8W…

1. Really excited to share our work using saturation genome editing to generate a variant effect map of the gene DDX3X. nature.com/articles/s4146…. It’s been a privilege to lead this work together with HongKee TAN, with brilliant mentorship from Matt Hurles and Sebastian Gerety. A 🧵:

📢Want access to state-of-the art facilities and training + the opportunity to work with world-leading researchers?

⭐️Apply for one of our fully-funded #PhD studentships in our #diabetes and #Genetics & #Genomics themes.

Deadline: 02 Jan 2024
Details: tinyurl.com/BRCphd24

Great to see our work featured in Nature describing, the release of the 500k genomes. The work is just beginning! UK Biobank NIHR Exeter Biomedical Research Centre (BRC) University of Exeter Faculty of Health & Life Sci

Born without a pancreas, Tania helped our team discover a new gene finding sheds light on human development and could help the search for a type 1 #diabetes cure.

The gene is essential for the human pancreas, yet not present in most other animals.

news.exeter.ac.uk

Loads of exciting opportunities to work with us in rare disease genomics - come and join ExeterGenomes Exeter Rare Disease Exeter Med School University of Exeter in lovely Devon! See sites.exeter.ac.uk/rarediseasegen…. DM me if you'd like to discuss.

We’re launching a new £5.5million Wellcome funded PARADIGM project to improve diagnosis in rare disease.

It will couple functional genomics data with clinical and bioinformatics expertise to empower diagnosis and discovery in genomic medicine.

paradigmgenomics.org