Article

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

2025-02-23

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> To quantify the impact of non-canonical FBN1 splice site variants in undiagnosed Marfan syndrome (MFS), a connective tissue disorder associated with skeletal abnormalities and Familial Thoracic Aortic Aneurysm Disease (FTAAD). <h4>Methods</h4> A systematic analysis of ultra-rare FBN1 variants was performed using genome sequencing data from the 100,000 Genomes Project. Variants we...

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Literature Corpus work: 10aad930-4604-57c6-a1ea-82baab59f9b8
DOI: 10.1101/2025.02.18.25321172

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