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

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Authors: Steven Laurie,Davide Piscia,Leslie Matalonga,Alberto Corvó,Marcos Fernández-Callejo,Carles Garcia-Linares,Carles Hernandez-Ferrer,Cristina Luengo,Inés Martínez,Anastasios Papakonstantinou,Daniel Picó-Amador,Joan Protasio,Rachel Thompson,Raul Tonda,Mònica Bayés,Gemma Bullich,Jordi Camps-Puchadas,Ida Paramonov,Jean-Rémi Trotta,Angel Alonso,Marcella Attimonelli,Christophe Béroud,Virginie Bro

Journal title: Human Mutation

Journal number: 17/02/2022

Journal publisher: John Wiley & Sons Inc.

Published year: 2022

Published pages: 659-667

DOI identifier: 10.1002/humu.24353

ISSN: 1059-7794