Join us St Anne's College next week, from 5pm on Tuesday 16th July for 'Exploring Health Inequities in Personalised Medicine', with talks from Dr Leah Boyle and Dr Jason Torres. Further info and registration details can be found here: cpm.ox.ac.uk/event/explorin…

(1/4) I’m delighted to announce that our research on RNU4-2 is now out on nature . This is an exciting finding that will bring many diagnoses worldwide. We have updated some new results since the preprint: nature.com/articles/s4158…

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in nature nature.com/articles/s4158… 🧵 1/16

This is a fascinating finding and just highlights one of the many questions that this beautiful work has opened for us to consider. Please read threads by Nicky Whiffin and Yuyang Chen. Love to see how strong collaborative science impacts diagnoses around the world.

Inarguably the most important human genetics paper of the year, and a landmark moment in the history of neurodevelopmental disorder (NDD) genetics. Mutations in RNU4-2, encoding a small nuclear RNA (snRNA) are among the most frequent genetic causes of NDD, explaining up to 0.4%

Write up by the fantastic Laura Borg Department of Paediatrics featuring Sarah Wynn, Yuyang Chen, Stephan Sanders, Suzi Walker, Professor Dame Sue Hill, and Jessica and Nicole, two wonderful RNU4-2 mums. Lovely pic of Nicole with 10-year-old Mia Joy ❤️ paediatrics.ox.ac.uk/news/new-disco…

Come and work with us! The Lindgren Cecilia Lindgren Lab at the Big Data Institute Big Data Institute in Oxford is looking to hire a junior statistical geneticist/bioinformatician (finished or about to finish undergrad/masters): bit.ly/BDIbioinf24. Please share!

We’re looking for someone to work with us in analysing genotyping and sequencing data-sets, in beautiful Oxford, UK. Applications close at midday (BST) on August 16th.

Opportunity to join the Lindgren group and also work with the talented and kind Duncan! 🫵🌟

if you're a graduate interested in genetics / comp bio check this opportunity out!! Cecilia Lindgren + Duncan Palmer are an amazing mentor duo - DM if you have any Q's at all (i'm finishing this contract & going into a DPhil)

Though unfortunately I couldn't be at ICML 2024, glad to see our position paper on the importance of tabular data and foundation models is getting some attention (no doubt thanks to the enthusiasm of Mihaela van der Schaar) 😊 arxiv.org/abs/2405.01147

Just 6 days left to apply! Please share!

Super-excited to be leading this new initiative with Preben Bo Mortensen Bjarni Vilhjalmsson Erin E Gabriel Cecilia Lindgren Chris Holmes Peter Visscher. Many 🙏to the Danish foundations for the funding vision. 10+ jobs advertised - work with leaders in stats, causal inference & machine learning

In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe developmental disorders (DDs) and establish a major role for incompletely penetrant rare variation. Now out on medRxiv: medrxiv.org/content/10.110…

We have explored a few potential reasons for why unaffected parents may be able to tolerate and transmit a DD-risk variant, including cis-regulatory variation... See thread from Emilie Wigdor👇 x.com/EmilieWigdor/s…

… as well as how polygenic risk may play a role. (Much more in their paper than that of course!) See threads from Emilie Wigdor x.com/EmilieWigdor/s… And Qinqin Huang x.com/qinqin_huang/s…

Incredible work from Kaitlin Samocha investigating rare, inherited, damaging variants in DDs. I’ve seen a lot of her blood, sweat and tears go into this since I was a baby PhD! So many insights in here that inspired a lot of my own research, and many others’ work, as well! 🤩💪🏻

It's three weeks until the OHC Symposium in Oxford! Session 1 THERAPEUTIC GENOMICS features James Davies MRC WIMM, Jasmina Kapetanovic, Stephan Sanders Department of Paediatrics Oxford_IDRM, Sarah Tabrizi UCL Queen Square Institute of Neurology and Nicky Whiffin Big Data Institute

Excited to share our new work on the common and rare variant genetic architecture of cognitive ability across childhood and adolescence, using data from Children of the 90s, UCL Centre for Longitudinal Studies, and UK Biobank. medrxiv.org/content/10.110…

Listen out for our new podcast series Trusting the Science starting tomorrow Thursday 19 September with a fascinating conversation between Oxford Vaccine Group Director Andrew Pollard and Dr. Anthony Stephen Fauci, former Chief Scientific Advisor to seven US Presidents. podcasts.ox.ac.uk