Platforms & Tools

Genome-Phenome IconGenome-Phenome Analysis Platform

Analyse and share genomic data.

GPAP-PhenoStore is used to collect standardised phenotypic information from individuals whose omics data will be analysed. Information is collected with customised forms using vocabularies and ontologies such as the Human Phenotype Ontology (HPO), the Orphanet Rare Disease Ontology (ORDO) and Online Mendelian Inheritance in Man (OMIM).

Data from sequencing experiments submitted by participating research projects is processed with a standard pipeline and made available for online analysis through a user-friendly interface to authorised users.

Solve-RD webinars on how to use the GPAP to analyse exome and genome sequencing data of rare disease patients can be found here.

Rare Diseases Models & Mechanisms - Europe (RDMM-Europe)

This brokerage service will catalyse connections between people discovering new genes in rare disease patients and basic scientists who can study those genes and pathways in model organisms. Register as a model organism investigator or submit a disease gene to establish a connection.

Clinical Patient Management System (CPMS)Clinical Patient Management System (CPMS)

The CPMS is a secure IT-Platform used by clinicians across Europe to discuss patient cases without the patients having to travel. The ERN Experts (from one or more ERNs) gather in multidisciplinary panels and use CPMS to carry out e-consultations of rare and complex cases. Patient medical documents can be safely uploaded to the CPMS after a consent form has been signed by the patient.
Integrated tools in CPMS allow peer-to-peer communication, viewing of digital documents and recording expert contributions. This promotes an active collaboration, sharing knowledge and experience within and across ERNs. The health professionals are ultimately aiming an outcome either as a diagnosis, treatment, clinical trial or other.

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