Episode 4 of the ESHG Webinar Series is now available on YouTube! Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease. 📺 Watch the recording: youtu.be/pWhienkM6L4?... #Genomics #RareDisease #VariantInterpretation #ESHG

I'm not against preventative screening, if done appropriately, but all this money for preemptive WGS at a time when our budget for #genomic testing patients *who actually have a disease* is being cut by 10%? Explain that to me someone.

Evaluation of generation study (newborn genomes ‘pilot’) not yet done, so why announce it’s being rolled out to all babies?? We tried to make sense of issues involved cpm.ox.ac.uk/wp-content/u... and cpm.ox.ac.uk/event/newbor... led by excellent @rachel-horton.bsky.social @cpmoxford.bsky.social

We want to learn more about the genetics of cardiomyopathy. Are you over 18, in the UK and interested in taking part in research? Go to thehearthive.org to learn more about the Heart Hive Cardiomyopathy Study.

Our paper now published! 🙌🏻🧬🫀 @alexbutters25.bsky.social @k-jt.bsky.social @njhenden.bsky.social @dgmacarthur.bsky.social @kathrynmcgurk.bsky.social @jamesware.bsky.social @sharday-penn.bsky.social @rdbagnall.bsky.social @garvaninstitute.bsky.social @escardio.bsky.social doi.org/10.1093/eurh...

I am pleased to share this @ahajournals.bsky.social CircGen paper. It is a team effort. I hope we have provided valuable insights on how KCNH2 variant that alters splicing and causes a large in-frame deletion can lead to a dominant negative effect of Kv11.1 K+ #ionchannel function.

I am giving an online webinar in an hour for @eshg.bsky.social, if anyone is interested and free 👇

🧵 I’m excited to share our latest preprint! We studied 252 SCN5A variants found in patients with Brugada Syndrome by automated patch clamp. [1/7]

New preprint! We worked with @msftresearch.bsky.social and @broadinstitute.org to see whether large language models (LLMs) can be useful to variant scientists in deciding whether genetic variants seen in a patient are responsible for their disease. tl;dr yes they can: www.biorxiv.org/content/10.1...

Let me tell you a story about 2 patients we identified, both with a rare variant in TNNT2; NM_001001430.3: c.571-1G>A. Both had cardiac phenotypes and both had Oceanian ancestry Our latest in EHJ! @alexbutters25.bsky.social @escardio.bsky.social #medsky #genechat #cardiosky doi.org/10.1093/eurh...

Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29 Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social www.sciencedirect.com/science/arti...

🫀🧬Great work by the Filamin C Registry Consortium! In their multicenter retrospective study, FLNCtv was linked to higher risk of sudden cardiac death (SCD) & malignant ventricular arrhythmia (MVA), especially in probands & phenotype-positive cases. jamanetwork.com/journals/jam...

Our study on an SCN5A enhancer variant that is a major cause of Brugada syndrome in Thailand has just been published in the first @ahajournals.bsky.social Circulation issue of 2025 - also now open access! www.ahajournals.org/doi/full/10.... #cardiosky #cardiogen 🧬

Announcing new free ESHG webinar series! 🗓️ Last Wednesday of each month 📅 First episode: Feb 26, 2025 (16:00 CET) 🎤 Speaker: Malte Spielmann 💡 Topic: "The Dark Side of the #Genome: Challenges & Opportunities in the Post-Genomic Era" 🔗 Register now: wma.eventsair.com/eshg-webinar...

The changing landscape of genetics and insurance in the UK - report on an event hosted by the Centre for Personalised Medicine, Oxford and the British Society for Genetic Medicine. bsgm.org.uk/media/12689/...

🧬 Our dilated #cardiomyopathy GWAS out today! 📍https://www.nature.com/articles/s41588-024-01952-y All made possible with friends and collaborators from HERMES Consortium @alberthenry.bsky.social @tomlumbers.bsky.social @jamesware.bsky.social @mrc-lms.bsky.social @imperialnhli.bsky.social #BHF 🧵 👇

A little editorial I wrote for #JACCHF on the challenges of identifying modifier genetic factors for hypertrophic cardiomyopathy. @jaccjournals.bsky.social authors.elsevier.com/a/1kCHM7tD%7... (<- free access link until Jan 21st) #cardiogen