Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

@article{Proost2015PerformantMI,
  title={Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.},
  author={Dorien Proost and Geert Vandeweyer and Josephina A N Meester and Simone Salemink and Marlies J. E. Kempers and Christie Ingram and Nils Peeters and Johan B. Saenen and Christiaan J M Vrints and Ronald V. Lacro and Dan M. Roden and Wim Wuyts and Harry C Dietz and Geert R. Mortier and Bart Loeys and Lut Van Laer},
  journal={Human mutation},
  year={2015},
  volume={36 8},
  pages={808-14}
}
At least 14 causative genes have been identified for both syndromic and nonsyndromic forms of thoracic aortic aneurysm/dissection (TAA), an important cause of death in the industrialized world. Molecular confirmation of the diagnosis is increasingly important for gene-tailored patient management but consecutive, conventional molecular TAA gene screening is expensive and labor-intensive. To circumvent these problems, we developed a TAA gene panel for next-generation sequencing of 14 TAA genes… CONTINUE READING

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