VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects.

ABSTRACT:

Motivation

Identifying disease-causing variants from exome sequencing projects remains a challenging task that often requires bioinformatics expertise. Here we describe a user-friendly graphical application that allows medical professionals and bench biologists to prioritize and visualize genetic variants from human exome sequencing data.

Results

We have implemented VCF/Plotein, a graphical, fully interactive web application able to display exome sequencing data in VCF format. Gene and variant information is extracted from Ensembl. Cross-referencing with external databases and application-based gene and variant filtering have also been implemented. All data processing is done locally by the user's CPU to ensure the security of patient data.

Availability and implementation

SUBMITTER: Ossio R 

PROVIDER: S-EPMC6853650 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature