Caroline Wright
@carolinefwright
Academic research scientist in human genetics and genomic medicine (https://t.co/0qv9wG8bXn); pianist; hiker & outdoors enthusiast
ID:2894469489
27-11-2014 11:27:53
251 Tweets
989 Followers
526 Following
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…
Excellent first annual meeting of the Wellcome PARADIGM team, paradigmgenomics.org. We shared some exciting science and had fun along the River Exe! Ensembl The DECIPHER Project 🧬Ian Simpson👨🏼💻💙🏴 Helen Firth Jonathan Mill Joe Marsh James Ware @exetermed
Fabulous few days at #SGGDExeter2024 , with some inspiring science, people and views! Enjoyed talking about DDD and learning about diabetes genetics. Thanks Mike Weedon Sarah Flanagan for a great meeting.
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
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.
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…
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 🧵: