142 Update on familial thoracic aortic aneurysm disease in the 100,000 genomes project: space for discovery
Published: May 1, 2019
Abstract
Background
The 100,000 Genomes Project offers an unprecedented opportunity to leverage whole genome sequencing data to characterise the hereditary basis of Familial Thoracic Aortic Aneurysm Disease (FTAAD). FTAAD is a heterogeneous group of syndromic and isolated aortopathies. The genetic basis of this presentation often remains undiscovered.Purpose
To define the FTAAD cohorts available in the 100,000 Genomes Project and...Paper Details
Title
142 Update on familial thoracic aortic aneurysm disease in the 100,000 genomes project: space for discovery
Published Date
May 1, 2019
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Notes
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