Services: software tools

VarAFT is a software designed to annotate and filter Human NGS data. This system was developed within the RD-Connect project and was instrumental for the creation of the RD-Connect Genome-Phenome platform. As a stand-alone java system, it ensures full data protection, critical for clinical use. VarAFT provides experiments’ quality, annotates, and allows the filtration of VCF files. Data from multiple samples can be combined to address different Mendelian Inherited Disorders, Population Genetics or Cancers. It contains unique variant priorization features including OMIM, HPO, Gene Ontology, pathways and predictions from UMD-Predictor and Human Splicing Finder in addition to classical annotations from dbNSFP . It is used by many research and clinical laboratories worldwide.

Performs ranking of variants in genomic datasets, integrating information from multiple sources to prioritize each variant by its deleteriousness, novelty and existing information.

Accurate validation, mapping and formatting of sequence variant descriptions

A high recall search engine to support the curation of genomic variants.

https://academic.oup.com/bioinformatics/article/38/9/2595/6547047

Galaxy server for the functional annotation and prioritization of genetic variants.

A software package for the automatic discovery of enriched motifs in a set of related DNA sequences, including ChIP-Seq peaks.

WheatIS is a portal that enables data discovery through an international federation of distant informations systems about wheat genetics and genomics in the frame of the Wheat Initiative (www.wheatinitiative.org). The WheatIS portal allows a keyword-based discovery of any type of data. It currently gives a single entry point to data provided by twelve different worldwide institutes.

Federated genomics data sharing platform allowing users to query genomic and phenotypic information.

Workflow plugins provide pipelines for the most common NGS processing tasks, including alignment (WES, WGS, WGBS, RNA-seq), quality control and variant calling (SNV, indel, CNV, SV).

Workflow4Metabolomics resource is based on the Galaxy environment that provides user-friendly interfaces to build, run, and share comprehensive data analysis workflows and gives access to a High Performance Computing environment the ELIXIR-FR/IFB infrastructure. Thus, W4M offers more than 40 tools to process data from all three main technologies (NMR, GCMS, LCMS), including unique algorithms developed by the W4M developers themselves. Data and workflows can be re-used and publicly shared, thus becoming useful references for the community. Finally, the platform provides many tutorials and a help desk.

WorkflowHub is a registry for describing, sharing and publishing scientific computational workflows.
The registry supports any workflow in its native repository.

This package provides functions and routines for a supervised analysis of somatic signatures. In particular, functions to perform a signature analysis with known signatures (LCD = linear combination decomposition) and a signature analysis on stratified mutational catalogue (SMC = stratify mutational catalogue) are provided.

Repository of regulatory associations between transcription factors and target genes in Saccharomyces cerevisiae.