Journal
HUMAN MUTATION
Volume 43, Issue 6, Pages 717-733Publisher
WILEY
DOI: 10.1002/humu.24353
Keywords
data sharing; data standardization; diagnostics; genome analysis; NGS; patient matchmaking; rare diseases
Categories
Funding
- RD-Connect
- NeurOmics
- RD-Connect (RD-Connect)
- Seventh Framework (FP7) Programme of the European Union [305444]
- EU [H2020 779257]
- Instituto de Salud Carlos III [PT13/0001/0044, PT17/0009/0019]
- ELIXIR-EXCELERATE [676559, ELIXIR IT-2017-INTEGRATION]
- Rare Disease Infrastructure ELIXIR
- Beacon ELIXIR [2019-2021, 001-P-001647]
- European Regional Development Fund of the European Union
- (Secretaria d'Universitats i Recerca del Departament d'Empresa i Coneixement de la Generalitat de Catalunya) [SLT002/16/00174]
- (Generalitat de Catalunya)
- Consequitur (Newton Fund UK/Turkey) [MR/N027302/1]
- BBMRI-LPC (EU) [313010]
- NeurOmics (EU) [305121]
- Economic Development Department of the Navarra Government [001114112017, 739510]
- NIH, National Institute of Child Health and Human Development [1R01HD103805-01]
- Spanish Ministry of Economy, Industry and Competitiveness (MEIC)
- Centro de Excelencia Severo Ochoa
- CERCA Program/Generalitat de Catalunya
- Generalitat de Catalunya through Departament de Salut and Departament d'Empresa i Coneixement
- European Regional Development Fund [2014-2020]
- Smart Growth Operating Program
- Canadian Institutes of Health Research [FDN-167281]
- Canadian Institutes of Health Research and Muscular Dystrophy Canada
- Canada Foundation for Innovation [CFI-JELF 38412]
- Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health) [950-232279]
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Rare disease patients are now more likely to receive rapid molecular diagnosis, but some cases still remain undiagnosed. The RD-Connect GPAP provides a standardized platform for data collection, sharing, and analysis to aid in diagnosing cases and discovering new disease causing genes.
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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