Genomic Autopsy of Sudden Deaths in Young Individuals.

ABSTRACT:

Importance

Postmortem genetic testing of young individuals with sudden death has previously identified pathogenic gene variants. However, prior studies primarily considered highly penetrant monogenic variants, often without detailed decedent and family clinical information.

Objective

To assess genotype and phenotype risk in a diverse cohort of young decedents with sudden death and their families.

Design, setting, and participants

Pathological and whole-genome sequence analysis was conducted in a cohort referred from a national network of medical examiners. Cases were accrued prospectively from May 2015 to March 2019 across 24 US states. Analysis began September 2016 and ended November 2020.

Exposures

Evaluation of autopsy and clinical data integrated with whole

SUBMITTER: Webster G 

PROVIDER: S-EPMC8358810 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature