Andrew Glazer
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amglazer.bsky.social
Andrew Glazer
@amglazer.bsky.social
220 followers 150 following 29 posts
Assistant Professor at Vanderbilt Univ. Medical Center. Arrhythmia genetics, ion channels, high-throughput methods. http://andrewglazerlab.com.
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amglazer.bsky.social
Vanderbilt's division of Genetic Medicine has an open faculty position: apply.interfolio.com/177945
Apply - Interfolio {{$ctrl.$state.data.pageTitle}} - Apply - Interfolio
apply.interfolio.com
January 22, 2026 at 7:31 PM
Reposted by Andrew Glazer
chaiannng.bsky.social
Additionally, the functional evidence for 275 SCN5A variants from our recent SCN5A automated patch-clamp study is now accessible in ClinVar.
January 21, 2026 at 10:15 PM
amglazer.bsky.social
A nice editorial about our recent SCN5A automated patch clamp paper. @chaiannng.bsky.social academic.oup.com/eurheartj/ad...
Reducing the variant of uncertain significance burden in inherited cardiac disorders: from variant to function to action?
This editorial refers to ‘Automated patch clamp data improve variant classification and penetrance stratification for SCN5A–Brugada syndrome’, by M.J. O’Ne
academic.oup.com
January 21, 2026 at 5:56 PM
amglazer.bsky.social
Whoa--Gemini Nano Banana is amazing at turning a "napkin sketch" of a molecular pathway into a nice-looking figure! 🤯
January 9, 2026 at 10:13 PM
amglazer.bsky.social
Excited to share our preprint: “Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk!” We performed ~50,000 experimental measurements of KCNQ1 variants.
www.medrxiv.org/content/10.64898/2025.12.15.25341924v1
December 17, 2025 at 2:50 PM
Reposted by Andrew Glazer
shawnfayer.bsky.social
The effects of genetic variants primarily occur in differentiated cells meaning we need to access these cell types to measure variant effects for most disease genes. We developed saturation genome editing in stem cells (iPSC-SGE) to enable phenotyping in diverse genetic and cell contexts at scale!
Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contexts
Multiplexed assays of variant effect (MAVEs) systematically measure variant function but have been limited to cancer cell lines rather than disease-relevant cell types. We developed saturation genome ...
www.medrxiv.org
November 22, 2025 at 1:49 AM
Reposted by Andrew Glazer
jdmosley-moses.bsky.social
The Mosley lab is seeking creative postdoctoral fellows interested in applying innovative population-based genomic and informatics approaches to translate genetics into clinical settings.

labs.utsouthwestern.edu/mosley-lab/p...

www.utsouthwestern.edu/research/pos...

🧪🧬🖥️
People | Mosley Lab | UT Southwestern, Dallas, Texas
Meet the PI and team members of the Mosley Lab.
labs.utsouthwestern.edu
November 21, 2025 at 4:14 PM
Reposted by Andrew Glazer
chaiannng.bsky.social
Thank you @amglazer.bsky.social for the exciting opportunity to collaborate! Since then, we've provided functional evidence supporting the VUS reclassification in children with abnormal sodium #ionchannel function at Sydney Children’s Hospital.
amglazer.bsky.social Andrew Glazer @amglazer.bsky.social · Nov 20
📝 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]
November 21, 2025 at 12:14 AM
amglazer.bsky.social
📝 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]
November 20, 2025 at 7:22 PM
amglazer.bsky.social
Congrats to Matthew O'Neill for winning an American Heart Association Early Career award for our work on functional studies of SCN5A variants from patients with Brugada syndrome!
November 10, 2025 at 1:31 AM
Reposted by Andrew Glazer
euanashley.bsky.social
So excited about this new work from our CardioVar consortium out this week in Science led by the amazing Daniel Tabet and @fritzroth.bsky.social.

www.science.org/doi/10.1126/
November 1, 2025 at 8:33 PM
amglazer.bsky.social
I gave my daughter C, A, and T cards to spell "cat." She grabbed a G and added it to the mix. Is she hinting at a future career in genetics? 🧬 🐾
September 23, 2025 at 5:31 PM
Reposted by Andrew Glazer
varianteffect.bsky.social
🧬 Out this month in Nature Reviews Cardiology: A powerful look at how multiplexed assays of variant effects (MAVEs) are reshaping our understanding of cardiovascular disease genetics. Contributors include members of the AVE Alliance.
📑 www.nature.com/articles/s41...
#Cardiology #FunctionalGenomics
Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine - Nature Reviews Cardiology
In this Review, Roden and co-workers describe how multiplexed assays of variant effects can be used for high-throughput functional assessment of nearly all coding variants in a target sequence to impr...
www.nature.com
September 19, 2025 at 1:04 PM
Reposted by Andrew Glazer
varianteffect.bsky.social
The 9th Annual Mutational Scanning Symposium will be held in Melbourne, Australia March 25-27, 2026 🌟 #VariantEffect26
www.mss2026.org Registration will open soon!!!!
September 15, 2025 at 2:38 PM
Reposted by Andrew Glazer
ajhgnews.bsky.social
📣New today!
📄Landscapes of missense variant impact for human superoxide dismutase 1
🧑‍🤝‍🧑 @axakova.bsky.social @fritzroth.bsky.social & co
Landscapes of missense variant impact for human superoxide dismutase 1
SOD1 variants cause the motor neuron disease amyotrophic lateral sclerosis. Axakova et al. functionally assay ∼86% of all possible SOD1 missense variants, producing a variant-effect map resource that ...
www.cell.com
September 15, 2025 at 4:07 PM
Reposted by Andrew Glazer
natrevgenet.nature.com
And follow it up with @natrevcardiol.nature.com's review on the application of MAVEs in cardiology by @amglazer.bsky.social et al.

Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine
go.nature.com/3JOJYc3
rdcu.be/eFmoe
Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine - Nature Reviews Cardiology
In this Review, Roden and co-workers describe how multiplexed assays of variant effects can be used for high-throughput functional assessment of nearly all coding variants in a target sequence to impr...
go.nature.com
September 10, 2025 at 8:51 AM
amglazer.bsky.social
📝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.
September 3, 2025 at 7:03 PM
Reposted by Andrew Glazer
roddywalsh.bsky.social
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 🧬🫀
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...
www.ahajournals.org
August 29, 2025 at 4:46 PM
amglazer.bsky.social
Having some summer fun...Glazer Lab Olympics! Our lab competed in 6 lab-themed events.
July 16, 2025 at 2:56 PM
Reposted by Andrew Glazer
cacna1c.bsky.social
More smiles to share with you; this time, Andrew Glazer and Richard Dolder from the Glazer Lab at Vanderbilt University Medical Center.

New blog: timothysyndrome.org/research/det...

#CACNA1C #RareDisease #Research @amglazer.bsky.social @vanderbilt.edu
June 18, 2025 at 6:16 PM
amglazer.bsky.social
My wife and I had a lovely time in Spain, including the excellent #VariantEffect25 meeting!
May 25, 2025 at 8:09 AM
Reposted by Andrew Glazer
dougfowler.bsky.social
Our "Atlas of Variant Effects 2030 Roadmap" is live: zenodo.org/records/1542...

1/n
Atlas of Variant Effects 2030 Roadmap: resolving human variants of uncertain significance
At the Clinical Atlas of Variant Effects meeting (CLAVE meeting, July 2024, Pittsburgh USA), we developed recommendations for a draft atlas that can be realized by 2030, with a focus on empowering gen...
zenodo.org
May 15, 2025 at 3:44 PM
Reposted by Andrew Glazer
jdmosley-moses.bsky.social
Congratulations, John Shelley.

news.vumc.org/2025/04/25/p...

#VUMCMSTP #VUMCDBMI
#PopGen #Bioinformatics #Genomics 🧬🖥️🧪
Polygenic score for height could improve diagnosis for children with short stature: study
About 30% of children with short stature do not have a definitive diagnosis, leading to extra testing and anxiety.
news.vumc.org
April 26, 2025 at 6:00 PM
Reposted by Andrew Glazer
jmarshlab.bsky.social
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 @varianteffect.bsky.social

Open, interpretable, and clinically useful VEPs are the goal.

📄 doi.org/10.1186/s130...
Guidelines for releasing a variant effect predictor - Genome Biology
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 well...
doi.org
April 15, 2025 at 12:24 PM
Reposted by Andrew Glazer
ajhgnews.bsky.social
📣New from Bastarache & co
📄Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades
Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades
A study of electronic health records (EHRs) from 1.8 million patients at Vanderbilt University Medical Center highlights the growing role of genetic testing in clinical medicine. The study demonstrate...
www.cell.com
April 17, 2025 at 8:42 PM