Genetic analysis of arrhythmogenic diseases in the era of NGS: the complexity of clinical decision-making in Brugada Syndrome.

A cohort of 45 clinically diagnosed Brugada Syndrome patients classified as SCN5A-negative was analyzed using next generation sequencing. Twenty-eight genes were resequenced. A total of 85 clinically evaluated relatives were also genetically analyzed to ascertain familial segregation. We identified genetic variants in novel candidate genes potentially associated to Brugada Syndrome. The identification of these genetic variants opens new perspectives on the implications of genetic background in the arrhythmogenic substrate for research purposes.

Identifier
Source https://data.blue-cloud.org/search-details?step=~0124CFC1BC8F267716CB768F8F832AB911EC6EB3461
Metadata Access https://data.blue-cloud.org/api/collections/4CFC1BC8F267716CB768F8F832AB911EC6EB3461
Provenance
Publisher Blue-Cloud Data Discovery & Access service; ELIXIR-ENA
Publication Year 2024
OpenAccess true
Contact blue-cloud-support(at)maris.nl
Representation
Discipline Marine Science
Spatial Coverage (2.000W, 41.000S, 2.000E, 41.000N)
Temporal Point 2013-01-01T00:00:00Z