Document Type
Article
Publication Date
6-2022
Publication Title
Human mutation
Keywords
JGM, Exome, Genetic Association Studies, Genomics, Humans, Phenotype, Rare Diseases
JAX Source
Hum Mutat 2022 Jun; 43(6):717-733
Volume
43
Issue
6
First Page
717
Last Page
733
ISSN
1098-1004
PMID
35178824
DOI
https://doi.org/10.1002/humu.24353
Abstract
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.
Recommended Citation
Laurie S,
Piscia D,
Matalonga L,
Corvó A,
Fernández-Callejo M,
Garcia-Linares C,
Hernandez-Ferrer C,
Luengo C,
Martínez I,
Papakonstantinou A,
Picó-Amador D,
Protasio J,
Thompson R,
Tonda R,
Bayés M,
Bullich G,
Camps-Puchadas J,
Paramonov I,
Trotta J,
Alonso A,
Attimonelli M,
Béroud C,
Bros-Facer V,
Buske O,
Cañada-Pallarés A,
Fernández J,
Hansson M,
Horvath R,
Jacobsen J,
Kaliyaperumal R,
Lair-Préterre S,
Licata L,
Lopes P,
López-Martín E,
Mascalzoni D,
Monaco L,
Pérez-Jurado L,
Posada de la Paz M,
Rambla J,
Rath A,
Riess O,
Robinson P,
Salgado D,
Smedley D,
Spalding D,
't Hoen P,
Töpf A,
Zaharieva I,
Graessner H,
Gut I,
Lochmüller H,
Beltran S.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Hum Mutat 2022 Jun; 43(6):717-733
Comments
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License.