Back from #ASHG2023 - was a super opportunity to hear some great #science & connect with so many clever people. A quick shout out also to Alice Carter from our Precision genetics team Novo Nordisk who did a fantastic job presenting her work on ancestry specific MR #genetics

New paper from Reza Maroofian & colleagues - Bi-allelic #ACBD6 variants lead to a #Neurodevelopmental Syndrome with progressive & complex movement disorders. Pleased to see this one finally out in ⁦Brain⁩ 🧬 #RareDisease ⁦Newlife the Charity⁩ academic.oup.com/brain/advance-…

Machine learning methods for variant effect prediction

Great photo Constance Maurer 🤩

Gaurav Sorry to hear about this. Please find our recently published open access manuscript in which we highlight the limitations of alternative model systems and why animal model is needed and we also stress the importance of #zebrafish in drug screens. onlinelibrary.wiley.com/doi/full/10.10…

Not sure if anyone who follows me on here is interested in Science or The Radio, but there are some good jobs going here, in the BBC Radio Science Unit: careers.bbc.co.uk/job/Cardiff-Pr…

3 more weeks until the abstract submission deadline for #eshg2024 #hybridconference! The Scientific Programme Committee invites you to submit an abstract for inclusion in the programme. All information can be found on our website 2024.eshg.org/abstracts/ #genetics #genomics

Great talk from Réka Nagy on the importance of incorporating diverse ancestry for genetic target discovery & #PrecisionMedicine 🧬Keystone Symposia #KSCardioMetab24 #GenesandHealthStudy

Our study is out nature. We identify non-lipid risk pathways for coronary artery disease using pooled CRISPR-interference for 2,285 genes at GWAS loci. With an amazing team we identified the genetic risk pathways for CAD that act in endothelial cells. nature.com/articles/s4158…

Interesting piece on #WomenInLeadership - definitely worth a read 🤩 bit.ly/48gYf7N

Our latest recessive cardiomyopathy gene summary is for NRAP, potentially one of the most prevalent biallelic cardiomyopathy genes and which has been robustly associated with DCM for several years now. nature.com/articles/s4416… #recessiveCMgenes

On #RareDiseaseDay2024, we highlight the work of the Undiagnosed Diseases Network, a collaborative research venture funded by NIH to bring together clinical and research experts, which use flies, worms, and #zebrafish to diagnose human genetic diseases.

#RareDiseaseDay2024

Thrilled to have attended the Women in Data flagship event today with some incredible female members of our team!🌟Inspiring discussions, invaluable connections & a powerful celebration of women's achievements in data science. #WomenInData #Empowerment Women in Data®

Happy International Women’s Day - can you name the inspirational women on the cupcakes 😉😁 Let's honour the trailblazers who inspire us all! #InternationalWomensDay #WomenInData #InspirationalWomen

Homozygous loss-of-function #RTN2 variants in 7 families with distal hereditary motor neuropathy (#dHMN) using exome, genome and Sanger sequencing coupled with deep-phenotyping. #RareDisease #GeneticDiagnosis 🧬 A great effort led by Reza Maroofian

Our lab, in collaboration with partners from Genentech, Sanofi, @gsk, Pfizer Inc., Wellcome Sanger Institute, and EMBL-EBI, has been awarded £2M by Open Targets to generate novel perturbation data across multiple disease models and develop large generative models to facilitate the discovery

A webserver (PGSFusion: pgsfusion.net), where you can upload GWAS summary stats and you receive: 👉polygenic risk scores (PRS) with 16 different methods 👉prediction performance statistics in UK Biobank preprint 📜: biorxiv.org/content/10.110…

Nice paper quantifying the (unsurprising) limited benefit of WGS in association discovery. The broader discussion should include also other important uses of WGS data beyond association: imputation panels, constraint, popgen... And we'll see if this will change with long reads.