PΨFinder: a practical tool for the identification and visualization of novel pseudogenes in DNA sequencing data.

ABSTRACT:

Background

Processed pseudogenes (PΨgs) are disabled gene copies that are transcribed and may affect expression of paralogous genes. Moreover, their insertion in the genome can disrupt the structure or the regulatory region of a gene, affecting its expression level. These events have been identified as occurring mutations during cancer development, thus being able to identify PΨgs and their location will improve their impact on diagnostic testing, not only in cancer but also in inherited disorders.

Results

We have implemented PΨFinder (P-psy-finder), a tool that identifies PΨgs, annotates known ones and predicts their insertion site(s) in the genome. The tool screens alignment files and provides user-friendly summary reports and visualizations. To demonstrate its applicabili

SUBMITTER: Abrahamsson S 

PROVIDER: S-EPMC8812246 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature