Article

Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection

2025-05-19

Abstract excerpt

<h4>Background</h4> Thoracic aortic aneurysm and dissection (TAAD) can have catastrophic health consequences. Eleven genes have strong or definitive evidence for causing heritable TAAD (HTAAD). However, patients are seldom tested for rare pathogenic (P) or likely pathogenic (LP) variants in these HTAAD genes absent a strong family history or syndromic features, and little is known about either their prevalence in...

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Literature Corpus work: ec889f76-3627-5782-8b3d-27d138177b1e
DOI: 10.1101/2025.05.18.25327858

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