Andrew Glazer
@amglazer.bsky.social
Assistant Professor at Vanderbilt Univ. Medical Center. Arrhythmia genetics, ion channels, high-throughput methods. http://andrewglazerlab.com.
This was a collaborative project led by Matthew O'Neill and Joanne Ma and co-supervised by me, Jamie Vandenberg, and @chaiannng.bsky.social. Link: academic.oup.com/eurheartj/ad... [4/4]
academic.oup.com
November 20, 2025 at 7:22 PM
This was a collaborative project led by Matthew O'Neill and Joanne Ma and co-supervised by me, Jamie Vandenberg, and @chaiannng.bsky.social. Link: academic.oup.com/eurheartj/ad... [4/4]
Variants with severe loss-of-function had ~25% penetrance & 501x increased odds of BrS. Normal-function variants had lower risk. This work stratifies SCN5A variants into low-risk vs high-risk categories, aiding diagnosis & management for patients & families. [3/4]
November 20, 2025 at 7:22 PM
Variants with severe loss-of-function had ~25% penetrance & 501x increased odds of BrS. Normal-function variants had lower risk. This work stratifies SCN5A variants into low-risk vs high-risk categories, aiding diagnosis & management for patients & families. [3/4]
Using our calibrated automated patch clamp assay, we identified 146 abnormal function variants and reclassified 110 VUS. [2/4]
November 20, 2025 at 7:22 PM
Using our calibrated automated patch clamp assay, we identified 146 abnormal function variants and reclassified 110 VUS. [2/4]
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!