/vibe

Variant Interpretation using Biomedical literature Evidence

Primary LanguageJavaGNU Lesser General Public License v3.0LGPL-3.0

VIBE

A tool to generate prioritized genes using phenotype information.

Web app

Quickstart

  • Download vibe .jar file
  • Download and extract TDB
  • Make sure you have Java 8 or higher
  • Open a terminal and run VIBE. java -jar vibe-1.0.jar -v -t TDB/ -o results.tsv -p HP:0002996 -p HP:0001377

Detailed instructions

For developers

Instructions regarding building/testing the app can be found here and how to create a TDB for the app can be found here.

Requirements

* = Only required when certain arguments are used.

Usage

java -jar vibe-with-dependencies.jar [-h] [-v] -t <FILE> [-w <FILE> -n <NAME> -m <NUMBER>] -o <FILE> [-s <NAME>] [-l] -p <HPO ID> [-p <HPO ID>]...

Examples

Using only the user-defined phenotypes with the output being sorted based on the highest gene-disease association score present per gene:

java -jar vibe-with-dependencies.jar -v -t TDB/ -s gda_max -o results.tsv -p HP:0002996 -p HP:0001377

Output file:


+630 more lines


Using the user-defined phenotypes and phenotypes that are related to them with a maximum distance of 1 with the output sorted based on the Disease Specificity Index:

java -jar vibe-with-dependencies.jar -v -t TDB/ -w hp.owl -n distance -m 1 -s dsi -o results.tsv -p HP:0002996

Output file:


+2711 more lines


Using the user-defined phenotypes and their (grand)children with a maximum distance of 2 with the output sorted based on the Disease Pleiotropy Index:

java -jar vibe-with-dependencies.jar -v -t TDB/ -w hp.owl -n children -m 2 -s dpi -o results.tsv -p HP:0002996

Output file:


+974 more lines

F.A.Q.

Q: It takes forever to retrieve information from the TDB.

A: Depending on the how much information needs to be retrieved from the TDB based on the input genes, this process may indeed take a while. However, there are ways to speed up this process. Examples include using an SSD instead HDD and using a 64-bit JVM.