Andrew Glazer
@amglazer.bsky.social
Assistant Professor at Vanderbilt Univ. Medical Center. Arrhythmia genetics, ion channels, high-throughput methods. http://andrewglazerlab.com.
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
Link: www.nature.com/articles/s41... Thanks to CardioVar coauthors @fritzroth.bsky.social Dan Roden, Dan Tabet, Vicki Parikh, Euan Ashley, Calum MacRae, and more!
September 3, 2025 at 7:03 PM
Link: www.nature.com/articles/s41... Thanks to CardioVar coauthors @fritzroth.bsky.social Dan Roden, Dan Tabet, Vicki Parikh, Euan Ashley, Calum MacRae, and more!
This was a collaborative project led by Matthew O'Neill and Joanne Ma and co-supervised by Jamie Vandenberg, @chaiannng.bsky.social and myself. Check out our preprint for more details! www.medrxiv.org/content/10.1... [7/7]
Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for SCN5A-Brugada Syndrome
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 e...
www.medrxiv.org
March 20, 2025 at 1:53 AM
This was a collaborative project led by Matthew O'Neill and Joanne Ma and co-supervised by Jamie Vandenberg, @chaiannng.bsky.social and myself. Check out our preprint for more details! www.medrxiv.org/content/10.1... [7/7]
Our data helps stratify SCN5A variants in BrS patients into normal-function "bystander" variants with low BrS risk and loss-of-function variants with higher BrS risk. We hope the dataset will improve diagnosis and clinical management of BrS patients and their families. [6/7]
March 20, 2025 at 1:53 AM
Our data helps stratify SCN5A variants in BrS patients into normal-function "bystander" variants with low BrS risk and loss-of-function variants with higher BrS risk. We hope the dataset will improve diagnosis and clinical management of BrS patients and their families. [6/7]
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]
March 20, 2025 at 1:53 AM
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]
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]
March 20, 2025 at 1:53 AM
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]
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]
March 20, 2025 at 1:53 AM
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]