Fig. 1

Flow chart of variant filtering for identification of potentially causative variants in SUD. Whole exome sequencing (WES) was performed in samples of 16 individuals who died suddenly and cause of death was not conclusive after a complete autopsy. Flow chart of variant filtering and the mean value of variants identified are shown. Overall, a mean value of 68,947 variants per sample were identified. The first step involved filtering by quality, population frequency, functional impact, LOVD and ClinVar classification to discard variants classified as likely benign/benign. This filter step resulted in a mean value of 276 variants per sample. Filtering by HPO matches (sudden cardiac death, arrhythmia, status epilepticus or apnea), mode of inheritance and variant classification, ended up in a mean value of four variants per sample. Clinical interpretation including the age of death resulted in eleven potentially causative variants