JACC Clin Electrophysiol
August 2023
Background: Different genes have been associated with idiopathic ventricular fibrillation (IVF); however, there are no studies correlating genotype with phenotype.
Objectives: The aim of this study was to define the genetic background of probands with IVF using large gene panel analysis and to correlate genetics with long-term clinical outcomes.
Methods: All consecutive probands with a diagnosis of IVF were included in a multicenter retrospective study.
Motivation: Intragenic exonic deletions are known to contribute to genetic diseases and are often flanked by regions of homology.
Results: In order to get a more clear view of these interspersed repeats encompassing a coding sequence, we have developed EDIR (Exome Database of Interspersed Repeats) which contains the positions of these structures within the human exome. EDIR has been calculated by an inductive strategy, rather than by a brute force approach and can be queried through an R/Bioconductor package or a web interface allowing the per-gene rapid extraction of homology-flanked sequences throughout the exome.