Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

ABSTRACT:

Background

Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to showcase the utility of molecular autopsy in defining lethal variants in humans.

Methods

We describe our experience with a cohort of 481 cases in whom the cause of premature death was investigated using DNA from the index or relatives (molecular autopsy by proxy). Molecular autopsy tool was typically exome sequencing although some were investigated using targeted approaches in the earlier stages of the study; these include positional mapping, targeted gene sequencing, chromosomal microarray, and gene panels.

Results

The study include

SUBMITTER: Shamseldin HE 

PROVIDER: S-EPMC8511862 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature