HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.

ABSTRACT:

Background

Molecular autopsy represents an efficient tool to save the diagnosis in up to one-third of sudden unexplained death (SUD). A defined gene panel is usually used for the examination. Alternatively, it is possible to carry out a comprehensive genetic assessment (whole exome sequencing, WES), which also identifies rare, previously unknown variants. The disadvantage is that a dramatic number of variants must be assessed to identify the causal variant. To improve the evaluation of WES, the human phenotype ontology (HPO) annotation is used internationally for deep phenotyping in the field of rare disease. However, a HPO-based evaluation of WES in SUD has not been described before.

Methods

We performed WES in tissue samples from 16 people after SUD. Instead of a fixed gen

SUBMITTER: Schon U 

PROVIDER: S-EPMC8011092 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature