GENOME-PHENOME ANALYSIS PLATFORM

- GPAP -


Welcome to the online Genome-Phenome Analysis Platform

Here you will find links to the tools and associated guides that have been developed to help you with your rare disease research

REGISTRATION

To access the RD-Connect online Genome-Phenome Analysis Platform , you need to be a validated user. We are happy to accept registrations from users who wish to explore the data as well as users who want to submit their genomics data.

To register, please click the button below where we only request some information to validate your credentials.

Registration Form »

DATA SUBMISSION & DATA MANAGEMENT

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).


Submit and Manage Experiment and Files Metadata

Submit and Manage Experiments and Files metadata from this GPAP module. For any issue, please contact help@rd-connect.eu

Submit Experiment and Files metadata »

Submission guidelines »

DATA ANALYSIS

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.

Access to platform

Access »

Reset your password »


Access to CohortApp - Beta version

Access »


Access to IGV - GPAP

Access »



Playground version

Documentation

FAQ »

Video tutorials »

With the support of:
Elixir Solve-RD IRDIRCRR IRDIRCRR IRDIRCRR EJP-RD

Other RD-Connect Resources
Registry & Biobank Finder

The Registry & Biobank Finder is an online catalogue listing biobanks and patient registries connected to RD-Connect.

Access to the Registry & Biobank Finder »

Propose new registries/biobanks »

Join EuroBioBank »

Registry & Biobank Finder video tutorial »

Biosample Catalogue

The Sample Catalogue is an online sample-level database enabling researchers to search for rare disease biosamples and contact the EuroBioBank biobank holding the samples.

Search for samples »

Access the sample catalogue »

About EuroBioBank »

Bioinformatics Tools

Bioinformatics tools and related resources developed within or made available through the NeurOmics, EURenOmics and RD-Connect consortia.

List of tools »