David Murdock: Identifying High-Risk Variants of Uncertain Significance in Aortopathy Genes
David Murdock, Assistant Professor at The University of Texas Health Science Center at Houston, shared a post on LinkedIn about a recent article he and his colleagues co-authored, published in Genetics in Medicine, adding:
“Excited to share our recent publication in Genetics in Medicine on identifying high-risk variants of uncertain significance (VUS) in aortopathy genes.
Using bioinformatic tools, we show how select VUS are strongly associated with increased risk of aortic dissection, helping move genetic findings closer to clinical action.”
Title: Using bioinformatic tools to identify high-risk variants of uncertain significance in aortopathy genes that increase aortic dissection risk
Authors: John DePaolo, Dong-chuan Guo, David R. Murdock, Alana C. Cecchi, Scott A. LeMaire, Hu Ying Shen, Anthony L. Estrera, Hazim J. Safi, Joseph S. Coselli, Josh Smith, Michael J. Bamshad, Scott Damrauer, Dianna M. Milewicz
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