Andrew Glazer
@amglazer
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Assistant Professor at Vanderbilt Univ. Medical Center. Arrhythmia genetics, ion channels, high-throughput methods. https://t.co/SME2KRmfPt.
Nashville, TN
Joined June 2010
Genetic testing helped Tia Hansen's family stay ahead of long QT syndrome (LQTS)—and live life to the fullest. On #WorldHeartDay, we’re proud to partner with @SADSFoundation to expand access to genetic testing for families like Tia’s: https://t.co/nG1eoceFzr
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And follow it up with @NatRevCardiol's review on the application of MAVEs in cardiology by @amglazer et al. Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine https://t.co/DTbAn6cLox
https://t.co/bJukzeF4YE
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Link: https://t.co/YScGfx9HQy Thanks to CardioVar coauthors @rodendm @vnparikh @euanashley @calum_og @DanTabet Fritz Roth and more
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📝Check out our review “Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine”, out in @NatRevCardiol. We review the use of Multiplexed Assays of Variant Effect and variant effect predictors in cardiovascular disease.
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Officially validated IMO gold medal, purely via search in token space, achieved in 4.5 hrs (unclear at what compute cost). The solutions read nicely as well
deepmind.google
Our advanced model officially achieved a gold-medal level performance on problems from the International Mathematical Olympiad (IMO), the world’s most prestigious competition for young...
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New paper out in Genome Biology! 🎉 We lay out best-practice guidelines for releasing variant effect predictors, developed through the Atlas of Variant Effects Alliance @varianteffects Open, interpretable, and clinically useful VEPs are the goal. 📄
genomebiology.biomedcentral.com
Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human genetic variation, as...
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We have described a novel pathology with a therapeutic opportunity in long QT syndrome (Jervell and Lange-Nielsen syndrome). The study is now available on medRxiv and is registered on https://t.co/IAvXlKsHlO (NCT06534671). https://t.co/a4q4GWGcPB
medrxiv.org
Background KCNQ1 loss of function variants are thought to cause type 1 long QT syndrome by reducing I Ks. However, we have recently reported that pharmacologic block of I Ks in human induced plurip...
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Look at the distribution of z-values from medical research!
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Thanks to our coauthors. This was a collaborative project led by @mjoneill95 and @joanne_gjm and co-supervised by @VandenbergJamie, @ChaiAnn_Ng and myself. Check out our preprint for more details! https://t.co/maEVDhr7iN [7/7]
medrxiv.org
Background Brugada Syndrome (BrS) is an inherited arrhythmia disorder that causes an elevated risk of sudden cardiac death. Approximately 20% of patients with BrS have rare variants in SCN5A , which...
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Our data helps stratify SCN5A variants into normal-function "bystander" variants with low BrS risk and loss-of-function variants with high BrS risk. We hope the dataset will improve diagnosis and clinical management of BrS patients and their families. [6/7]
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Disease risk was proportional to the severity of loss-of-function; variants with Z ≤ -6 had a penetrance of 24.5% and an odds ratio of 501 for BrS. [5/7]
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Out of 252 variants, 146 were functionally abnormal (Z ≤ -2), with 100 showing severe loss-of-function (Z ≤ -4). Functional evidence allowed us to reclassify 110 of 225 VUS: 104 to likely pathogenic and 6 to likely benign. [4/7]
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Using automated patch clamp, we analyzed 252 SCN5A variants from a previously published cohort of 3,335 BrS cases. We previously showed this assay performs well on benign/pathogenic controls. The controls were used to calculate normalized Z-scores for the 252 variants. [3/7]
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Brugada Syndrome (BrS) is an inherited arrhythmia disorder with an elevated risk of sudden cardiac death. ~20% of patients have rare variants in the cardiac sodium channel gene SCN5A. Challenges include Variants of Uncertain Significance (VUS) and incomplete penetrance. [2/7]
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🧵 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]
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Once again a task I had been putting off for weeks took 5 minutes. I will learn nothing from this.
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Atrial fibrillation is far more heritable than generally perceived. Two new reports @NatureGenet identify many more linked genomic variants and a refined polygenic risk score @patrick_ellinor
https://t.co/u3MP4BKCNR
https://t.co/07dtEIbJm3
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In 1958, this man’s heart kept stopping—20 times a day. Doctors had no solution. Then his wife demanded an experimental surgery that had only been tested on dogs. What happened next changed medicine forever. 🧵
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The first step of any meaningful pursuit is to severely underestimate its difficulty.
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Early versions of ChatGPT overrepresented certain words like "delve," and those words exploded in scientific lit. But certain words were underrepresented, too. Here's the top 4: https://t.co/m5rDIeTQ6K
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