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Delighted to share that our work identifying new diagnoses for patients with #RareDisease in Genomics England 100K Genomes Project has been published in Genome Medicine! link.springer.com/article/10.118…

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project ⁦Jenny Lord⁩ ⁦Southampton Medicine⁩ ⁦Genomics England⁩ ⁦Alex Blakes⁩ ⁦Nicky Whiffin⁩ v pleased to see this out genomemedicine.biomedcentral.com/articles/10.11…

Jenny Lord on analysis of RNAseq from 4,400 individuals in the 100,000 genomes project identifies new potential diagnoses #eshg2023

🚨 New preprint 🚨 medrxiv.org/content/10.110… "Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants" Fantastic team effort co-led with incredible trio Jenny Lord, Hilary Martin and Diana Baralle 🧵1/6

I am breaking a long twitter hiatus with some exciting news: 🚨A new preprint!🚨 medrxiv.org/content/10.110… I am super excited to be sharing this, and hope you enjoy reading it! Key points (A 🧵):

Predicting the impact of rare variants on RNA splicing in CAGI6. New paper from us ⁦CAGI⁩ #CAGI6 thank you ⁦Jenny Lord⁩ ⁦Carolina Jaramillo Oquendo⁩ ⁦Htoo Aung Wai⁩ ⁦Steve Mount⁩ ⁦Predrag Radivojac⁩ link.springer.com/article/10.100…

Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in Genomics England ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9

Thanks to all the #genomes100k participants Jing Yu Jenny Lord Suzi W and all coauthors & esp Genomics England and GECIP team for making this project possible

Next up - Jenny Lord really driving home the importance of expanding to incorporate more varied data than protein coding alone. #GERS24

Scientists uncover genetic disorder that may affect thousands around world dlvr.it/T9SXM3

(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

Our free online course in #GenomeVariation starts on 29 July 🖥️ If you’re looking to improve your classification and interpretation skills, this is a fantastic opportunity to learn from experts in the field. 📎Sign up for #FLGenomicVariantsDiversity now: bit.ly/3R7G7aK

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach. Well done ⁦Carolina Jaramillo Oquendo⁩ new paper for lab. transcriptome finds mutations not found by DNA first pass ⁦Jenny Lord⁩ ⁦⁦Htoo Aung Wai⁩ link.springer.com/article/10.118…

Look beyond exons! Non-coding variants in introns, UTRs, promoters & enhancers in trans with pathogenic coding variants bring answers in undiagnosed recessive developmental disorders bit.ly/3XWxxyf Nicky Whiffin Diana Baralle Hilary Martin Jenny Lord

For anyone else making the change - I have the same username on the other site - hope to see you there! 🦋

Our new research article is out in European Journal of Human Genetics! rdcu.be/d1rI4. Inside we explore the congenital heart disease cohorts of the 100,000 genomes project. Colin A Johnson Sunayna Best Steph Baross Jenny Lord Keavney Lab Gavin Ryan Jacqueline Eason @kathrynhentges

Fully funded PhD studentship available with me and Meena Balasubramanian The University of Sheffield investigating novel causes of rare disease using bioinformatics and big data sets! Application deadline 28th March. Faculty of Health | University of Sheffield SCYPHeR Initiative findaphd.com/phds/project/s…

📢 We're making our largest ever investment in early-career researchers Through #Springboard25, we’re investing £7.6m in 62 researchers to drive innovations that improve health and wellbeing 🌍🔬 Congrats to all 2025 awardees! 🎉 👉 bit.ly/springboard25 Department for Science, Innovation and Technology