Excited to share our recent paper related to both congenital and acquired long QT syndrome. We propose a novel role of KCNQ1 beyond simply generating IKs in the human heart. academic.oup.com/cardiovascres/…

Nice work Yuko!

It was great to have a meeting of our "CardioVar" group in Nashville! Dan M Roden MD euan ashley Calum MacRae Frederick (Fritz) Roth Victoria Parikh, MD Brett Kroncke Daniel Tabet

I'm thrilled to announce the Wankowicz Lab will be opening in August Vanderbilt Molecular Physiology & Biophysics, AI Center for Protein Dynamics, and Vanderbilt Center for Structural Biology. We will be developing novel methods to model conformational ensembles and study how entropy affects enzyme specificity and catalysis!

How did I ever debug code before ChatGPT?!

Interesting report of Brugada Syndrome and sudden death due to a transplanted heart! The donor heart had an SCN5A variant. As the authors note our group had previously showed this variant causes a large reduction in channel function. ahajournals.org/doi/epub/10.11…

Coming up next month! 📌🗓️ Jingyou Rao Ayesha Muhammad @[email protected] varianteffect.org/seminar-series

It was great to collaborate with Andrew Glazer Matthew O'Neill from Vanderbilt University Medical Center to make this assay more widely available for patients who need it. We at Victor Chang Cardiac Research Institute are now ready to test more VUSs in SCN5A that have been referred to us A/Prof Jodie Ingles Helen Mountain CSANZ

Love this figure. For all of you who have a love hate relationship with SCN5A variants… check out this functional assay which can help with classification Andrew Glazer Chai Ng

I had a great time last week at the Ion Channel Gordon conference in lovely Mount Holyoke. Lots of great science and people. And birds.

Excited to share our latest work now out in Genome Biology! rdcu.be/dMzF6

We’re presenting the first AI to solve International Mathematical Olympiad problems at a silver medalist level.🥈 It combines AlphaProof, a new breakthrough model for formal reasoning, and AlphaGeometry 2, an improved version of our previous system. 🧵 dpmd.ai/imo-silver

Join us today for the Variant Effects Seminar Series! with Jingyou Rao (Harold Pimentel lab) and Ayesha Muhammad ℹ️varianteffect.org/seminar-series #FunctionalGenomics #Seminar

🚨 Online now! 📰Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes 🧑‍🤝‍🧑Lea Starita Shawn Fayer & co cell.com/ajhg/abstract/…

A significant effort to understand the rapid inactivation of hERG channels lead by Jamie Vandenberg 𝑪𝒂𝒓𝒖𝒔 𝑳𝒂𝒖 Mark Hunter and our collaborators Toby Allen Emelie Flood Billy Noonan Karen Corbett, Alastair Stewart Eduardo Perozo. Exciting times ahead! rdcu.be/dSl0r

1/3 of disease-causing variants are estimated to alter gene splicing🧬 👉Important effort to sum published data of experimental splicing validation 👉50,000 variants in 8,000 genes 📊Database: SpliceVarDB compbio.ccia.org.au/splicevardb/ 📰Paper: cell.com/ajhg/fulltext/… AJHG