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Article

Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants.

BMC medical genomics - 1 Mar 2021

Beil Adelyn, Hornsby Whitney, Uhlmann Wendy R, Aatre Rajani, Arscott Patricia, Wolford Brooke, Eagle Kim A, Yang Bo, McNamara Jennifer, Willer Cristen, Roberts J Scott

Abstract excerpt

BACKGROUND: Disclosure of pathogenic variants to thoracic aortic dissection biobank participants was implemented. The impact and costs, including confirmatory genetic testing in a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory, were evaluated. METHODS: We exome sequenced 240 cases with thoracic aortic dissection and 258 controls, then examined 11 aortopathy genes. Pathogenic variants in 6...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33648514
DOI: 10.1186/s12920-021-00902-5
PMCID: PMC7923508

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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