Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections

Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections

Abstract Background The identification of pathogenic variant in patients with thoracic aortic aneurysms and dissections (TAAD) was previously found to be a significant indicator pointing to earlier need for surgical intervention. In order to evaluate available methods for classifying identified gene...

Full description

Bibliographic Details
Main Authors: Joanna Kinga Ponińska, Zofia Teresa Bilińska, Grażyna Truszkowska, Ewa Michalak, Anna Podgórska, Małgorzata Stępień-Wojno, Przemysław Chmielewski, Anna Lutyńska, Rafał Płoski
Format: Article
Language:English
Published: BMC 2022-01-01
Series:Journal of Translational Medicine
Subjects:
Thoracic aortic aneurysm and dissections
Next-generation sequencing
Genetic variant classification
Recommendations of American College of Medical Genetics and Genomics/Association for Molecular for Molecular Pathology
Online Access:https://doi.org/10.1186/s12967-022-03251-8

Internet

https://doi.org/10.1186/s12967-022-03251-8

Similar Items