Still manually merging UK Biobank-linked health data? Faffing with Swiss Army Knife to extract variants or create polygenic scores? 🧬
I built {ukbrapR} so we could spend more time on science and less on data plumbing
If it helps you, please cite! 📊 citation('ukbrapR')
github.com/lcpilling/uk...
I’m in Oxford this Monday and Tuesday (morning). Looking forward to seeing many old friends and colleagues… and hopefully meet some new ones! talks.ox.ac.uk/talks/id/b6e...
While I was taking a holiday last week, 2 super exciting preprints dropped, adding to another posted 6 days prior.
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores”
www.medrxiv.org/content/10.1...
Sept is approaching & I can already hear initial chats/enquiries for potential PhD studies happening!
If you're interested in a PhD, check out our department @cam.ac.uk www.phpc.cam.ac.uk/education-an...
We've a super interdisciplinary faculty spanning primary care, data science, epidemiology etc
🚨 New preprint led by amazing duo @rociorius.bsky.social and @alexblakes.bsky.social in collaboration with @cassimons.bsky.social, @dgmacarthur.bsky.social and many other amazing folks! ❤️
We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬
See 🧵👇
🚨 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!
IMHO green computing & green software engineering are becoming even very important.
Check out our Green Algorithms Initiative for more tools and information www.green-algorithms.org
And the GREENER Principles which lay the foundation for a sustainability roadmap www.nature.com/articles/s43...
Our new draft V0.4 clonal/truncal somatic SV+CNV/CNA benchmark is at 42basepairs.com/browse/web/g.... Let us know if you have feedback to improve future versions!
Our paper about extensive genomic data for a new broadly-consented pancreatic cancer cell line and matched normal tissue is now published at doi.org/10.1038/s415...! Stay tuned for draft GIAB benchmarks for somatic variants, and assemblies from these data coming soon! 1/2
R package for working in the UK Biobank Research Analysis Platform (RAP) - lcpilling/ukbrapR
The last 10 years have seen the emergence of predictive models based on genetics which quantify an individual’s genetic predisposition for a specific trait or disease. In this talk, I will present our...
talks.ox.ac.uk
Background: SpliceAI is a deep learning algorithm that predicts whether genetic variants are likely to affect splicing. Precomputed spliceAI predictions for all theoretical SNVs and small indels were ...
www.medrxiv.org
Course Code – MDPU22 A doctorate from the University of Cambridge is primarily a research degree based on a research programme developed in conjunction with a supervisor.
