Tools

Tools, software and resources

Tools, software and databases we develop and maintain

VIsoQLR

An interactive tool for the detection, quantification and fine-tuning of isoforms using long-read sequencing

https://github.com/TBLabFJD/VIsoQLR

PriorR

Graphical filtering and prioritization program for genomic variants analysis

https://github.com/TBLabFJD/PriorR

GLOWgenes

A network-based algorithm for the prediction of gene-diasease associations. Designed to be used in the prioritization of candidate genes in WES and WGS analysis of rare diseases.

www.glowgenes.org

NextVariantFJD

DNASeq analysis designed for rare disease diagnosis (CES, WES, WGS) and implemented in nextflow

https://github.com/TBLabFJD/NextVariantFJD

PTMcode

Database for known and predicted functional associations between protein post-translational modifications (PTMs).

http://ptmcode.embl.de

Machine learning R code

https://github.com/pminguez/MachineLearning4UnbalancedData

Snow (Studying Networks in the Omic World)

Extracts the protein-protein interaction networks behind a list of genes/proteins (signature) and evaluates its robutness against same-size networks generated from random lists of genes/proteins.

http://babelomics.org

Babelomics

We are part of the consortium that develops Babelomics (http://babelomics.org), an on-line platform for an integral analysis of transcriptomic experiments, from raw data, normalization, differential expression, clustering, machine learning and other statistical analyses to the functional profiling using classical, gene set and network approaches.

more on ... https://github.com/TBLabFJD