EJP RD – RD-Connect Genome-Phenome Analysis Platform (GPAP) Webinar

Organiser – Centre Nacional d’Anàlisi Genòmica (CNAG-CRG, Barcelona, Spain)

This is an introductory webinar to demonstrate the benefits of using the RD-Connect Genome-Phenome Analysis (GPAP) platform for rare-disease analysis. The aim is to demonstrate how to use the RD-Connect GPAP Genomic Analysis module, which  supports research use cases that might lead to diagnosis, including gene discovery and cohort analysis.

Context for this workshop

The RD-Connect Genome-Phenome Analysis Platform (GPAP), hosted at CNAG-CRG, is an IRDiRC recognised resource. It is an online platform that facilitates collation, sharing, analysis and interpretation of integrated genome-phenome datasets for Rare Disease diagnosis and gene discovery. The purpose of the RD-Connect GPAP is to provide clinicians and researchers working on rare diseases with a tool to facilitate analysis of genomic data from their participants (participants include patients and relatives of patients) suffering from rare diseases.

The RD-Connect GPAP contains over 28,000 processed datasets with their corresponding clinical and phenotypic information, where the majority of the datasets (over 22,000) were collected as a part of the H2020 Solve-RD project (https://solve-rd.eu/).

The RD-Connect GPAP is designed for undertaking genomic analyses in a collaborative environment. The Genomic Analysis module supports research use cases that may lead to diagnosis, including gene discovery and cohort analysis. The Cohort module enables the creation of in silico cohorts which can be used for genomic analysis, and export of detailed phenotypic records for further studies.

Recently a brand new version of the Genomics Analysis module of the RD-Connect GPAP has been released which provides more functionalities to users and improves usability. Key features of the new release are:

• Full integration with the RD-Connect GPAP modules such as PhenoStore, Data Management
• Step-by-step setup of case analysis
• Automated filter settings
• Support for reproducible analysis
• Advanced cohort analysis and connection to the cohort creation module
• Larger number of accessible external knowledge databases
• Access to patient matchmaking, Exomiser and variant clinical significance intepretation from Varsome
• Integration with the report generation module

This webinar is designed to give attendees an overview of the utility of the RD-Connect GPAP platform for analysis of single cases to large cohorts, and explain in detail the different annotations and features available which facilitate analysis of integrated phenotypic and genomic data.  The webinar will also include a section on patient matchmaking.

The aims of this webinar are:

• to provide a better understanding of the functionalities of the RD-Connect GPAP Genomics Analysis module when performing integrated phenotypic and genomic analyses
• to encourage participants to take advantage of the functionalities of the RD-Connect GPAP

Expected outputs:

• participants will gain a better understanding of the benefits of performing analyses in the RD-Connect GPAP
• participants will get to know the large number of accessible external knowledge databases
• attendees will understand internal and external patient matchmaking possibilities

The target audience of this webinar: clinical geneticists and researchers working in the rare disease field  who are interested in using the RD-Connect GPAP platform to analyse their rare disease cases. No previous experience in conducting analyses in the RD-Connect GPAP is required.

This workshop will take place online via MS teams.

Attendees will be able to ask questions in the chat and/or after the presentation.

No previous registration is needed. Participants will be able to join via a direct link to the webinar provided below.

The webinar course is free of charge.

Sergi Beltran, Leslie Matalonga and Steven Laurie

The workshop will be given in English.

ONLINE

If you have any questions, please write to the workshop organizer:

Luca Zalatnai (help@rd-connect.eu)

Centre Nacional d’Anàlisi Genòmica (CNAG-CRG), Barcelona, Spain

The webinar will last approximately 60 minutes.

• Introduction (10 minutes, Sergi Beltran)
• Get started with the GPAP – basic analysis
• a family analysis explaining the new interface of the RD-Connect GPAP in details (20 minutes, Steven Laurie)
• Advanced features (15 minutes, Leslie Matalonga)
• Cohort app
• Matchmaker Exchange
• Clinical report
• Questions (15 minutes)