Molecular characterization of vascular intestinal obstruction using whole-exome sequencing.

ABSTRACT:

Background

Vascular intestinal obstruction is a rare intestinal disease with a rapid progression, poor prognosis, and high mortality. This study aimed to identify several mutations associated with vascular intestinal obstruction.

Methods

Whole-exome sequencing (WES) was performed on the peripheral blood of 9 sporadic patients with acute vascular intestinal obstruction. The mutation genes in each patient and the mutation genes shared by all 9 patients were identified. Next, a functional annotation analysis and a protein-protein interaction (PPI) analysis of the shared mutation genes in the 9 patients were performed. Copy number variations (CNVs) were identified using the open-source software CNV kit.

Results

In total, all 9 patients shared 112 mutation genes. The React

SUBMITTER: Ji Z 

PROVIDER: S-EPMC9096377 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature