Article
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Human mutation - 1 Jun 2022
Laurie Steven, Piscia Davide, Matalonga Leslie, Corvó Alberto, Fernández-Callejo Marcos, Garcia-Linares Carles, Hernandez-Ferrer Carles, Luengo Cristina, Martínez Inés, Papakonstantinou Anastasios, Picó-Amador Daniel, Protasio Joan, Thompson Rachel, Tonda Raul, Bayés Mònica, Bullich Gemma, Camps-Puchadas Jordi, Paramonov Ida, Trotta Jean-Rémi, Alonso Angel, Attimonelli Marcella, Béroud Christophe, Bros-Facer Virginie, Buske Orion J, Cañada-Pallarés Andrés, Fernández José M, Hansson Mats G, Horvath Rita, Jacobsen Julius O B, Kaliyaperumal Rajaram, Lair-Préterre Séverine, Licata Luana, Lopes Pedro, López-Martín Estrella, Mascalzoni Deborah, Monaco Lucia, Pérez-Jurado Luis A, Posada de la Paz Manuel, Rambla Jordi, Rath Ana, Riess Olaf, Robinson Peter N, Salgado David, Smedley Damian, Spalding Dylan, 't Hoen Peter A C, Töpf Ana, Zaharieva Irina, Graessner Holm, Gut Ivo G, Lochmüller Hanns, Beltran Sergi
Abstract excerpt
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...
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