Iām in Oxford this Monday and Tuesday (morning). Looking forward to seeing many old friends and colleaguesā¦ 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
š§µ by the amazing @christeldepienne.bsky.social š
1/3
I am super proud to present our new manuscript āUsing SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scoresā
www.medrxiv.org/content/10.1...
Still manually merging UK Biobank-linked health data? Faffing with Swiss Army Knife to extract variants or create polygenic scores? š§¬
I built {ukbrapR} so we could spend more time on science and less on data plumbing
If it helps you, please cite! š citation('ukbrapR')
github.com/lcpilling/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
The last 10 years have seen the emergence of predictive models based on genetics which quantify an individualās genetic predisposition for a specific trait or disease. In this talk, I will present our...
talks.ox.ac.uk
github.com
R package for working in the UK Biobank Research Analysis Platform (RAP) - lcpilling/ukbrapR
After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE).
š www.medrxiv.org/content/10.1...
šØ 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! ā¤ļø
We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 š§¬
See š§µš
Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...
www.medrxiv.org
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
Christel Depienne
Course Code ā MDPU22 A doctorate from the University of Cambridge is primarily a research degree based on a research programme developed in conjunction with a supervisor.
šØ Our parent-of-origin study is out in Nature! š§¬
Maternal and paternal alleles can have distinct ā even opposite ā effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
š www.nature.com/articles/s41...
Highlights below!
Nicky Whiffin
Mike Inouye
Mike Inouye
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
