List of tools and resources

A wide range of bioinformatics tools and other related resources are being developed within the RD-Connect consortium or made available via the RD-Connect platform. A list is provided below – click on the name of the tool or resource to view further details.

To add to this list, please contact David Salgado.

Alamut Focus

Variant filtration application

Alamut Functional Annotations (ALFA)

Gene regulation prediction

Alamut Visual

Mutation interpretation

Alamut Batch

Variant annotation

Bio Relations and Intelligence Network (BRAIN)

Data and literature mining

COEUS: Semantic Web Application Framework

Web-based knowledge management system

Diseasecard: Rare Diseases Research Portal


Dutch Diagnostic Variant Database (DVD)

Variant database

Electronic Pharmacogenomics Assistant (ePGA)

electronic Pharmacogenomics Assistant

European Genome-phenome Archive (EGA)

Sequencing archive


Variant analysis

Human Phenotype Ontology (HPO)


Human Splicing Finder (HSF)

Variant prediction system

Leiden Open Variation Database (LOVD)

Mutation database

Linked Data Demonstrator

integration of linked biobank and patient registry FAIR data


Genetic variant nomenclature software


Data formalism

Orphanet Rare Disease Ontology (ORDO)


Patient Archive

ontology-based deep clinical phenotype profiles

Peregrine literature indexing service

Text-mining software


Matchmaking tool


Phenotypic data collection tool

Rare Disease Registry Framework (RDRF)

Creation of web-based patient registries

Scaleus: Semantic Web Services Integration for Biomedical Applications

data migration tool

System for Ontology-based Re-coding and Technical Annotation (SORTA)

Matches data values with standard codes such as ontologies or local terminologies


Mutation filtering system


Variant prediction system

Universal Mutation Database (UMD)

Mutation database

VarAFT (Variant Analysis and Filtration Tool)

Variant prediction system

WAVe: Web Analysis of the Variome

Mutation database


Analysis workflow environment