A few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...

Pls retweet: ‼️ Skilled in bioinformatics? ⁉️ Join our cardiogenomics team @ AmsterdamUMC in lovely Amsterdam 🌷🌷

We have a vacancy for bioinformatician with prospect of permanent appointment. Info 👉🏻
werkenbij.amsterdamumc.org/en/vacatures...

More about us and our approach here 👉🏻
tinyurl.com/5brcsazv

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...

🚨Our double header on genetics of hypertrophic #cardiomyopathy out today in @naturegenet.bsky.social 🧬

📍GWAS www.nature.com/articles/s41...
📍polygenic scores www.nature.com/articles/s41...

A consortia effort by @jamesware.bsky.social Hugh Watkins @conniebezzina.bsky.social Rafik Tadros & Anuj Goel

📣📣Genomic data sharing: you don’t know what you’ve got (till it’s gone) www.nature.com/articles/s41...

A comment @natrevgenet.bsky.social from @katholt.bsky.social and me

Fascinating study on the prevalence of TRIM63 variants in HCM in a multi-ethnic cohort from Israel - biallelic variants in 4.7% of cases (= 18.5% of all P/LP cases). Additionally, monoallelic variants in 6.5% of HCM cases (OR=7.2 compared to controls).

www.ahajournals.org/doi/10.1161/...

Fascinating study on a TTN enhancer.

A MEF2-disrupting rare variant located in an intronic enhancer causing cardiac disease?

TTN 🤝 SCN5A

Interesting case study of a homozygous PLN variant (p.L39*) in a patient with severe DCM requiring HTx (het parents had LV hypertrophy). onlinelibrary.wiley.com/doi/10.1111/... Just the third such case reported (AFAIK) - PLN has very complex geno-pheno associations... #cardiogen #cardiosky 🧬

DCM GWAS is trending! Happy to share our DCM GWAS published today. An effort spearheaded by Sean Jurgens and with the generous collaboration of many colleagues.
One of the first papers emerging from DCM-NEXT EiC Pathfinder consortium (dcm-next.eu)

www.nature.com/articles/s41...