Alamut Functional Annotations (ALFA)

About the resource

Type of resource: Gene regulation prediction
License/availability:
Website: Click here to view website
User documentation:
Relevant publication:

Description

Alamut Functional Annotations (ALFA) is a gene regulation prediction software tool designed to identify genomic variations located in non-coding DNA that may be involved in gene regulation processes. ALFA compiles in one tool the current state-of-art about the annotations of DNA regulatory elements (such as promoters, transcription factor binding sites, enhancers, microRNA target sites) along with cell type or tissue specificity gathered from active international projects such as Ensembl Regulatory or FANTOM5. ALFA offers several ways to make its integration into next-generation sequencing analysis pipelines easier for bioinformaticians. ALFA also offers a graphical web interface to help researchers detect and annotate regulatory variants that may have functional effects on gene expression and splicing. ALFA, developed in the context of the RD-Connect project as a Clinical Bioinformatics tool, is available in the RD-Connect platform for a better understanding of biological processes underlying rare diseases.