Great to have this preprint out - In 50k CMRs of the UK Biobank, we identified common and rare genetic factors influencing trabeculation, identified modifiers, and assessed the relationship with cardiomyopathies and imaging-derived traits. Declan O'Regan medrxiv.org/cgi/content/sh…

Delighted to be involved in this fab paper by A/Prof Jodie Ingles and Dr Alex Butters 🧬🫀🌏

Splendid retreat with the lab to RHS Garden Wisley. Amazing team of scientists!

Had a fantastic 3 weeks at the Broad Institute with the Translational Genomics group - leaving with lots of research ideas and a better understanding of the All of Us data - Big thanks to Heidi Rehm Anne O'Donnell-Luria Kaitlin Samocha Sarah Louise Stenton and others 🧬 BHFCoREImperial NIHR Imperial BRC

At the Broad Institute annual Medical and Population Genetics Retreat today - come to *Poster 4* to chat about estimating penetrance 🧬

Great to be at this seminar listening to 2023 Nobel Laureate Drew Weissman at Harvard Medical School International Center for Genetic Disease

I've written about race, genetic ancestry, analyses of large biobanks, and human history

gusevlab.org/projects/hsq/#…

I'll summarize the key points here 🧵:

Excited to share AllofUsResearch program’s flagship genomics paper describing 245,388 clinical-grade genome sequences encompassing >1 billion genetic variants published today in nature
nature.com/articles/s4158…

Great to be at the The University of Manchester alumni gathering in Boston last night, celebrating the university’s 200 years. Dr. James Quinn Ben Owen 🟣

If you missed this masterclass in the spectrum of genetic cardiomyopathies by Roddy Walsh 🇪🇺 🇺🇦 , you can now watch it on our YouTube channel! youtube.com/watch?v=4aLTWY…

Fab presentations by Sarah Louise Stenton and K.M.Socarras and others, on new ways of discovering diagnoses for rare disease from Anne O'Donnell-Luria ‘s group at the Broad Institute MPG meeting 🧬

Inclusive genetic databases are so important as we venture further into the reality of genetic testing for diagnostic purposes. Under-represented populations need to be included at a level that's effective ⤵️

Great to chat about my current work studying cardiac trabeculation with the University of Illinois Chicago Biomedical Engineering department this afternoon bme.uic.edu/events/km-2-12… UIC CBQB Good discussion on the use of single-cell transcriptomics to follow up genetic results!

Heading to Boston today for 3 weeks at the Broad Institute working with Heidi Rehm ! Big thank you to the NIHR Imperial BRC and BHFCoREImperial for the fellowship. Eager to learn and meet, some exciting seminars in the diary - Boston folk, feel free to reach out ✈️ 🇺🇸 🧬 🫀