Thanks to @acmedsci.bsky.social for funding our project on exploring the complex genetic architecture of Brugada syndrome.

Via NFL Films, Caleb Williams’s craziest throws from his sophomore season

ECR? 🤔

A great selection of tracks, but the recordings never matched the intensity of the live versions. Last years live recordings release is a must have.

Brilliant. An expat im Dubai has a startling revelation, by @stephencollins.bsky.social

Happy birthday to one of my favourite haters, Charles Darwin

One on left is a black dog and above it the words “Reality”. Below it is “I chased a squirrel” One the right is a black dog and above it says “LinkedIn”. Below it says, Proud to announce that I effectively executed a rapid-response squirrel displacement strategy to mitigate potential yard intrusions. Humbled by the unwavering support of my family and local stakeholders. This experience reinforced the importance of vigilance, ownership, and continuous improvement. Looking forward to scaling this impact in future engagements.

😂

Sharron Davies ranting against 15 minute cities, because of course she is.

Suzanne Moore in the Telegraph saying she wants to... kill all dogs??

Julie Burchill asking "does it matter if Grok undresses us all?" in The Spectator

Graham Linehan in the midst of his now four-day-long double down on Alex Pretti's murder being justified and fine.

Calling transphobia a 'gateway drug' to the far right undersells it. It's pure accelerant. Grimly fascinating to guess what crankery becomes any famous transphobe's secondary obsession, cos they all have one: 15 minute cities are fascism! Grok noncing is cool! ICE are good! We should kill all dogs!

HAPPY HOLIDAYS TO ALL OF YOU!🎄✨

📝 Excited to share our latest work, now out at European Heart Journal! We studied 252 SCN5A variants previously found in patients with Brugada Syndrome, an inherited arrhythmia disorder linked to sudden cardiac death. [1/4]

🚨🧬 Registrations for the IV Bootcamp are now open! Limited to 30 spots—first come, first served. Acces the link in this thread.

Yes, some people's legacies are complicated. For example, Watson. After all, though he was racist, don't forget his other traits. For example, he was also sexist. And also anti-semitic. And a data / idea thief. So let's not forget all the different facets.

There is very little that is liberal about the current incarnation of the VVD. They went too far to the right and ended up with the same fate as every other centre-right party that tried the same. Meanwhile the real liberal party is surging in the polls.

A weekend of 10th anniversaries! Sorry to miss the party for St George's MSc Genomic Medicine. But an amazing meeting for the birthday of the Institute for Cardiomyopathies Heidelberg - great speakers, excellent science and a beautiful location.

Titin-related familial dilated cardiomyopathy: factors associated with disease onset AbstractBackground and Aims. Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur a

The original article by Johnson et al:

doi.org/10.1093/eurh...

Titin and the mystery of cardiomyopathy incidence This editorial refers to ‘Titin-related familial dilated cardiomyopathy: factors associated with disease onset’, by R. Johnson et al., https://doi.org/10.1

"Titin and the mystery of cardiomyopathy incidence" - our editorial commentary on the recent mega-study of TTN-related dilated cardiomyopathy, with @seanjosephjurgens.bsky.social @escardio.bsky.social doi.org/10.1093/eurh... #cardiosky 🧬🫀

📝Check out our review “Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine”, out in @natrevcardiol.nature.com. We review the use of Multiplexed Assays of Variant Effect and variant effect predictors in cardiovascular disease.

IEVs are regularly identified in HCM clinical genetic testing but are currently inadequately classified and reported (as either VUS or likely benign). Important that we move beyond simple Mendelian approaches to incorporate more comprehensive genetic profiling and risk assessment.

Clinical effects of intermediate effect variants on age of HCM diagnosis and major adverse cardiac events, compared to rare pathogenic variant carriers (genotype-positive) and genotype-negative cases.

IEVs can co-occur with rare Mendelian pathogenic variants, where they cause a severe phenotype including ⬆️ MACE, or in isolation where they have milder effects (age at diagnosis and wall thickness between genotype-positive and genotype-negative cases).

Characteristics of 14 HCM-associated intermediate effect variants - enrichment over ancestry-matched controls, odds ratios, ClinVar classifications, gnomAD frequencies and other evidence for pathogenicity.

Comparing >10K HCM cases with ancestry-matched controls, we identified 14 IEVs occurring in 6% of cases. Importantly, in 2/3 of carriers, IEVs were in non-sarcomere genes.

While we focused on Euro-ancestry cases, gnomAD data can highlight variants more prevalent in other populations:

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate Effect Variants | Circulation Background: Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous disorder primarily linked to rare variants in sarcomere genes, though recently certain non-sarcomeric genes have emerged as...

Our study on HCM intermediate effect variants (IEVs) is out today in Circulation, led by Juan Pablo Ochoa, Soledad García Hernandez and Luis De la Higuera Romero.

IEVs are low frequency/penetrance variants with moderate effects sizes (OR:5-10).
www.ahajournals.org/doi/10.1161/...

#ESCcongress 🧬🫀

This They Might Be Giants TONIGHT SHOW performance of "Birdhouse In Your Soul" from 1990 remains firmly lodged in my noggin thanks to the Tonight Show Band's full commitment and Doc Severinsen's incredible trumpeting... It took an already great song and made it transcendent.

🗓️ 🧬 I am happy to announce that our next Bootcamp of Genetics for cardiologists will be an special edition in English. It will take place on May 8th 2026 in Barcelona just the day before ESC HFA congress so you can make the most of your trip!

Metaphors don't come clearer than this...

TANK vs TESLA

"We've crushed fascism before and we'll crush it again"

- ⁠WW2 veteran Ken, 98, in the tank

Champions 😎

Superb!

This is high art