🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Join my team to develop pipelines for spatially resolved #singlecell transcriptomics data for the Human Cell Atlas

This is an amazing genomics job opportunity! You will get to work across the clinical/academic divide at a national level as Wales plans to implement it's personalised medicine strategy - pls RT krb-sjobs.brassring.com/TGnewUI/Search… Genomics Partnership Wales (GPW) Wales Gene Park WalesGMC

Great to see this important study published: "Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children." Congrats Courtney French @albasanchisjuan Isabelle Delon @imagineIDstudy et al! rdcu.be/bqlbH

Looking forward to travelling back to London to talk about work I conducted while at @GGM_ICH on the #100KGP to increase the diagnostic rate for #RareDisease and how I'm planning to expand on that work now I'm Cardiff University #genomics

We're hosting a seminar on 16th June at this year's #ESHG2019. We hope you can join us to hear from speakers including @albasanchisjuan and @jeroen_deridder. Register here: bit.ly/2WZwEUY

BBC News - Genome sequencing 'revolution' in diagnosis of sick children bbc.co.uk/news/health-48…

X-linked Intellectual disability does not always mean pathogenic variants on the X-autosomal variants could also be causal. Very happy to see my first last-author paper published! Thanks to the amazing @albasanchisjuan and to ProfLucy Raymond who is an extremely supportive mentor

Pls RT Interested in using #NGS to rapidly diagnose patients?Consider joining this FREE inaugural workshop I'm organising Speakers from academia, NHS and industry, including: Lamia Mestek-Boukhibar Ian Berry Suzanne Drury @ExeterExomes Wales Gene Park Genomics Partnership Wales (GPW) The All Wales Medical Genomics Service @LondonNorthGLH

I'm super excited to finally share the details of this workshop Aimed at those using rapid NGS techniques to diagnose patients with #RareDiseases it brings together a Stella line up of speakers for an informal meeting in beautiful #Cardiff to share best practices. #RND2020

"Recommendations for designing genetic test reports to be understood by patients and non-specialists” - what a great theme for my colleagues’ paper! nature.com/articles/s4143…

This is a superb idea, we can all help use our skills to help with the fight #COVID19 I'd be happy to do anything if it means those more experienced can focus their work where it matters most. Please consider..

Based on ~2000 children it looks like coronavirus is generally less severe in kids than adults BUT babies and young children (<5) are at higher risk of serious disease than older children. (This article has a link to the original research paper). tinyurl.com/vrcng3e

It’s out! Hundreds of colleagues, thousands of patients, many years. Very proud to have been a part of this. Whole-genome sequencing of patients with rare diseases in a national health system | Nature nature.com/articles/s4158…

After 4 years of close collaboration with scientists across the EU and US, we proudly present novel Alzheimer Disease-associated genes from our comparison of exome sequences from 12,652 AD patients and 8,693 non-demented controls. It's online at MedRxiv:medrxiv.org/content/10.110…

Finding non-coding rare variants that cause disease is hard. Dr Detelina Grozeva, Lambert Moyon, David FitzPatrick et al. show what it takes biorxiv.org/content/10.110…

1/6 New COVID-19 CABStudy results out today on public experiences of potential #Cancer symptoms during #COVID19. Further details here: cabs-study.yolasite.com Kate Brain UK Research and Innovation Cancer Research UK DPM PRIME Centre Wales CTRCardiffUni @CancerPrev_KCL University of Surrey Cancer Care Surrey Public Health Wales

We're delighted today to announce our new 'Emerging Leaders' programme - an initiative to support research fellows on their journey to independence! 🎉🧠 Find out more about programme & first UK DRI Emerging Leaders👉 bit.ly/2Qdq8eS (1/4)

Our second publication from PEACH is now available to view. Enitan Carrol 🇬🇲🇸🇱🏴󠁧󠁢󠁳󠁣󠁴󠁿🇬🇧 Jonathan Sandoe Dr Emma Thomas-Jones @MartinLlewelyn Dr Detelina Grozeva Dr Joanne Euden Neil Powell on behalf of the PEACH team. CTRCardiffUni academic.oup.com/jac/advance-ar…

Following on from our infographic we are very happy to share our new study animation. It’s a summary of all our work over the last 1.5 years on COVID-19 CABStudy. It highlights what we have done, our results, dissemination and impact so far. More here - cabs-study.yolasite.com