Exome Sequencing of 1429 Patients with Thoracic Aortic Disease at the Yale Aortic Institute: what Have We Learned? Article Swipe
Related Concepts
Medicine
Exome sequencing
Biology
Genetics
Mutation
Gene
Bulat A. Ziganshin
,
Mohammad A. Zafar
,
John A. Elefteriades
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1055/s-0044-1787954
· OA: W4400068152
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1055/s-0044-1787954
· OA: W4400068152
Objective: One in five cases of thoracic aortic aneurysm and dissection (TAAD) are familial. Although more than 60 genes (with varying degrees of evidence) have been implicated in causing TAAD, suspicious variants are found in only one-third of patients. Via exome sequencing of DNA samples from patients with thoracic aortic disease, we applied advanced gene searching techniques in an effort to identify additional causative genes for TAAD.
Related Topics
Finding more related topics…