Andrew Glazer
@amglazer.bsky.social
Assistant Professor at Vanderbilt Univ. Medical Center. Arrhythmia genetics, ion channels, high-throughput methods. http://andrewglazerlab.com.
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
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!
Reposted by Andrew Glazer
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/
www.science.org/doi/10.1126/
November 1, 2025 at 8:33 PM
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/
www.science.org/doi/10.1126/
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
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? 🧬 🐾
Reposted by Andrew Glazer
🧬 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
📑 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
🧬 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
📑 www.nature.com/articles/s41...
#Cardiology #FunctionalGenomics
Reposted by Andrew Glazer
The 9th Annual Mutational Scanning Symposium will be held in Melbourne, Australia March 25-27, 2026 🌟 #VariantEffect26
www.mss2026.org Registration will open soon!!!!
www.mss2026.org Registration will open soon!!!!
September 15, 2025 at 2:38 PM
The 9th Annual Mutational Scanning Symposium will be held in Melbourne, Australia March 25-27, 2026 🌟 #VariantEffect26
www.mss2026.org Registration will open soon!!!!
www.mss2026.org Registration will open soon!!!!
Reposted by Andrew Glazer
📣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
🧑🤝🧑 @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
📣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
🧑🤝🧑 @axakova.bsky.social @fritzroth.bsky.social & co
Reposted by Andrew Glazer
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
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
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
go.nature.com/3JOJYc3
rdcu.be/eFmoe
📝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
📝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.
Reposted by Andrew Glazer
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 🧬🫀
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
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 🧬🫀
IEVs are low frequency/penetrance variants with moderate effects sizes (OR:5-10).
www.ahajournals.org/doi/10.1161/...
#ESCcongress 🧬🫀
Having some summer fun...Glazer Lab Olympics! Our lab competed in 6 lab-themed events.
July 16, 2025 at 2:56 PM
Having some summer fun...Glazer Lab Olympics! Our lab competed in 6 lab-themed events.
Reposted by Andrew Glazer
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
New blog: timothysyndrome.org/research/det...
#CACNA1C #RareDisease #Research @amglazer.bsky.social @vanderbilt.edu
June 18, 2025 at 6:16 PM
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
New blog: timothysyndrome.org/research/det...
#CACNA1C #RareDisease #Research @amglazer.bsky.social @vanderbilt.edu
My wife and I had a lovely time in Spain, including the excellent #VariantEffect25 meeting!
May 25, 2025 at 8:09 AM
My wife and I had a lovely time in Spain, including the excellent #VariantEffect25 meeting!
Reposted by Andrew Glazer
Reposted by Andrew Glazer
Congratulations, John Shelley.
news.vumc.org/2025/04/25/p...
#VUMCMSTP #VUMCDBMI
#PopGen #Bioinformatics #Genomics 🧬🖥️🧪
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
Congratulations, John Shelley.
news.vumc.org/2025/04/25/p...
#VUMCMSTP #VUMCDBMI
#PopGen #Bioinformatics #Genomics 🧬🖥️🧪
news.vumc.org/2025/04/25/p...
#VUMCMSTP #VUMCDBMI
#PopGen #Bioinformatics #Genomics 🧬🖥️🧪
Reposted by Andrew Glazer
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...
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
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...
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...
Reposted by Andrew Glazer
📣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
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
📣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
Reposted by Andrew Glazer
🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2:
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...
www.medrxiv.org
April 11, 2025 at 10:00 AM
🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2:
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
Reposted by Andrew Glazer
I am pleased to share this @ahajournals.bsky.social CircGen paper. It is a team effort. I hope we have provided valuable insights on how KCNH2 variant that alters splicing and causes a large in-frame deletion can lead to a dominant negative effect of Kv11.1 K+ #ionchannel function.
Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS | Circulation: Genomic and Precision Medicine
www.ahajournals.org
March 27, 2025 at 1:40 PM
I am pleased to share this @ahajournals.bsky.social CircGen paper. It is a team effort. I hope we have provided valuable insights on how KCNH2 variant that alters splicing and causes a large in-frame deletion can lead to a dominant negative effect of Kv11.1 K+ #ionchannel function.
It was great to attend the ACMG clinical genetics meeting for the first time, including a fun session on advances in cardiovascular genomics.
March 22, 2025 at 1:00 AM
It was great to attend the ACMG clinical genetics meeting for the first time, including a fun session on advances in cardiovascular genomics.
🧵 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]
March 20, 2025 at 1:53 AM
🧵 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]
Reposted by Andrew Glazer
The 8th Annual Mutational Scanning Symposium is just around the corner! #VariantEffect25
What we are looking forward to:
🗣️Great talks!
🛠️Workshops!
🏆Poster session and awards!
🌏Amazing community!
⌛️March 1st deadline for abstracts!
What we are looking forward to:
🗣️Great talks!
🛠️Workshops!
🏆Poster session and awards!
🌏Amazing community!
⌛️March 1st deadline for abstracts!
February 25, 2025 at 4:47 PM
The 8th Annual Mutational Scanning Symposium is just around the corner! #VariantEffect25
What we are looking forward to:
🗣️Great talks!
🛠️Workshops!
🏆Poster session and awards!
🌏Amazing community!
⌛️March 1st deadline for abstracts!
What we are looking forward to:
🗣️Great talks!
🛠️Workshops!
🏆Poster session and awards!
🌏Amazing community!
⌛️March 1st deadline for abstracts!
Reposted by Andrew Glazer
Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29
Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social
www.sciencedirect.com/science/arti...
Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social
www.sciencedirect.com/science/arti...
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously publishe…
www.sciencedirect.com
February 18, 2025 at 6:14 AM
Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29
Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social
www.sciencedirect.com/science/arti...
Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social
www.sciencedirect.com/science/arti...
Reposted by Andrew Glazer
I have always wanted to work with testing laboratories to integrate #ionchannel functional data into their variant classification workflow to reclassify harmful variants as likely pathogenic and improve genetic diagnosis for patients with channelopathies. Under review, but preprint is available.
Calibrated Functional Data Decreases Clinical Uncertainty for Tier 1 Monogenic Disease: Application to Long QT Syndrome https://www.medrxiv.org/content/10.1101/2025.02.05.25321617v1
February 9, 2025 at 3:36 AM
I have always wanted to work with testing laboratories to integrate #ionchannel functional data into their variant classification workflow to reclassify harmful variants as likely pathogenic and improve genetic diagnosis for patients with channelopathies. Under review, but preprint is available.
Reposted by Andrew Glazer
“NIH is accordingly imposing a standard indirect cost rate on all grants of 15%”
February 7, 2025 at 11:29 PM
“NIH is accordingly imposing a standard indirect cost rate on all grants of 15%”