Really enjoying the #VariantEffect24 meeting. My favorite quote so far: 'Based on this data, it's highly possible that my method works!'

📢 🆕 📚 MAVE Protocols Collection!
This video tutorial is a step by step guide on how to add your Multiplexed Assays of Variant Effects (MAVE) protocols to the new Atlas of Variant Effects (AVE) protocols_io workspace.
ℹ 📽 youtube.com/watch?v=U4RpiW…

.Matthew O'Neill presenting at HRS24 Young Investigator Award basic science competition. Nice job!

.Andrew Glazer of @vumcchildren Vanderbilt Genetics Institute on #VUS results in #genetictesting . @HRSOnline #HRS2024

Back-to-back exciting presentations at HRS24 on preclinical therapies for Long QT syndrome from yukowada and Christian Egly from Vanderbilt

Our paper is finally out in it's final form!

Really proud of this work, the result of a fantastic international collaboration among experts brought together by Atlas of Variant Effects Alliance. Huge thanks to everyone involved!

Check out our paper: Minimum information and guidelines for reporting a multiplexed assay of variant effect. Great team effort through the AVE alliance Atlas of Variant Effects Alliance Melina Claussnitzer, Ph.D. Victoria Parikh, MD Alex Wagner Benedetta Bolognesi Alan Rubin genomebiology.biomedcentral.com/articles/10.11…

The ion channel functional genomic team from the Victor Chang Cardiac Research Institute attending #ICCG2024 held at Brisbane. PhD student Joanne will present her SCN5A patch clamp assay for Brugada Syndrome tomorrow at the oral prize session, a collaboration with Andrew Glazer Matthew O'Neill Good luck!

Join our SADS Session: The Future of Innovative Therapies & Diagnoses Inherited Arrhythmias at #HRS2024 where you can learn the latest in research from Prof. Arthur Wilde, Andrew Glazer, Silvia Priori, & Shubhayan Sanatani
moderated by Aarti Dalal & Sami Viskin.

More: sads.org/resources/heal….

A week of transitions in the Glazer Lab. Goodbye Zerubabell who is leaving for medical school and hello Ellen and Richard, PhD students who are joining the lab!

Today, I’m thrilled have our lab’s work featured on the cover of nature

In this article, we have developed a therapeutic approach for a severe condition called Timothy syndrome. This has been a long journey. It started with making hiPS cell-derived neurons in 2D cultures 15

Guidelines for releasing a variant effect predictor

By Ben Livesey Joe Marsh and other members of the atlas of Atlas of Variant Effects Alliance alliance 🧬

arxiv.org/abs/2404.10807

Excited to announce our preprint using MAVEs to reduce variant classification disparities in underrepresented populations and demonstrating AI bias in computational predictors for variant classification! (medrxiv.org/content/10.110…) Tweetorial below! (1/25)

A nice article on Bill Catterall’s legacy in our understanding of ion channels. thetransmitter.org/ion-channels/t…

Let me tell you a story about 2 patients we identified via a research study, both with a rare variant in the cardiac troponin T gene, TNNT2; NM_001001430.3: c.571-1G>A. Both had cardiac phenotypes and both had Oceanian ancestry /1

Just set a new personal record--2600 cells spanning 42 mutants patch clamped in 1 day! (with the help of a Nanion Technologies robot...)

Every mutation that could exist, does exist. That has only been true for ~200 years. Most beneficial variants just haven't had the time to become ubiquitous. But now, at least 50 people in the world have every possible mutation in the human genome.