The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel...

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Bibliographic Details
Authors: Laurie, Steven, 1973-, Piscia, Davide, Matalonga, Leslie, Corvò, Alberto, Fernández Callejo, Marcos, Garcia-Linares, Carles, Hernandez-Ferrer, Carles, 1987-, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó-Amador, Daniel, Protasio, Joan, Tonda, Raúl, Bayés, Mònica, Bullich, Gemma, Camps-Puchadas, Jordi, Paramonov, Ida, Trotta, Jean-Remi, Pérez Jurado, Luis Alberto, Rambla de Argila, Jordi, Gut, Ivo Glynne, Lochmüller, Hanns, Beltran, Sergi
Format: article
Status:Published version
Publication Date:2022
Country:España
Institution:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/53546
Online Access:http://hdl.handle.net/10230/53546
http://dx.doi.org/10.1002/humu.24353
Access Level:Open access
Keyword:NGS
Data sharing
Data standardization
Diagnostics
Genome analysis
Patient matchmaking
Rare diseases
Description
Summary:Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could not be identified and/or confirmed. To address these challenges, the RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates the collation, discovery, sharing, and analysis of standardized genome-phenome data within a collaborative environment. Authorized clinicians and researchers submit pseudonymised phenotypic profiles encoded using the Human Phenotype Ontology, and raw genomic data which is processed through a standardized pipeline. After an optional embargo period, the data are shared with other platform users, with the objective that similar cases in the system and queries from peers may help diagnose the case. Additionally, the platform enables bidirectional discovery of similar cases in other databases from the Matchmaker Exchange network. To facilitate genome-phenome analysis and interpretation by clinical researchers, the RD-Connect GPAP provides a powerful user-friendly interface and leverages tens of information sources. As a result, the resource has already helped diagnose hundreds of rare disease patients and discover new disease causing genes.

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