RNA-sequencing for Diagnosis and Novel Gene Discovery in Heritable Thoracic Aortic Aneurysms and Aortic Dissections (HTAD)
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Presenting Author - David R. Murdock, MD; Co-Author - Alana Cecchi, MS, CGC; Co-Author - Dongchuan Guo, PhD; Co-Author - Isabella C. Marin, RN, BSN; Co-Author - Xue-Yan Duan, PhD; Co-Author - Callie S. Kwartler, PhD; Co-Author - Dianna Milewicz, MD, PhD;
Meta Tag
Bioinformatics
Cardiovascular System
Genome sequencing
Sequencing
Variant Detection
Co-Author Alana Cecchi, MS, CGC
Co-Author Dongchuan Guo, PhD
Co-Author Isabella C. Marin, RN, BSN
Co-Author Xue-Yan Duan, PhD
Co-Author Callie S. Kwartler, PhD
Co-Author Dianna Milewicz, MD, PhD
Presenting Author David R. Murdock, MD
Keywords
RNA-sequencing
HTAD
causative gene variant
skin fibroblasts
splicing
expression outliers
gene expression profiles
abnormal splicing
nonsense-mediated decay
TAAD

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