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Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death.

Martina ModenaAlberto GiannoniAlberto AimoPaolo AretiniNicoletta BottoSimona VittoriniAndrea ScatenaDiana BonuccelliMarco Di PaoloMichele Emdin
Published in: Human genomics (2024)
This study highlights the efficacy of a multidisciplinary approach employing WES and a tailored virtual gene panel to elucidate the aetiology of juvenile SCD. The findings support the expansion of genetic testing using tailored gene panels and prioritization schemes as part of routine autopsy evaluations to improve the identification of causative variants and potentially facilitate early diagnosis in first-degree relatives.
Keyphrases
  • copy number
  • genome wide
  • smoking cessation
  • genome wide identification
  • dna methylation
  • clinical practice
  • gene expression
  • quality improvement
  • transcription factor