Toward Precision Medicine in Aortopathies: Genetic Insights from a Brazilian Cohort Through Targeted Next-Generation Sequencing
Juliana R. Ferreira, Júlia Passarelli Pereira, Anna Paula Arpini Botelho, Daniele N. Aprijo, Marcelo M. Melo, Helena Cramer Veiga Rey, Glauber Monteiro Dias
This study uses targeted next-generation sequencing to identify genetic variants in a Brazilian cohort with thoracic aortic diseases, finding pathogenic variants in key genes and highlighting the diagnostic yield for syndromic cases.
medRxiv · Dec 22, 2023 · PreprintGenetic & Genomic Medicine