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oai:recercat.cat:2072/4688162026-03-28T08:46:00Zcom_2072_98col_2072_378192

00925njm 22002777a 4500 dc Bullich Vilanova, Gemma author Matalonga, Leslie author Pujadas, Montserrat author Papakonstantinou, Anastasios author Piscia, Davide author Tonda, Raúl author Artuch, R. author Gallano, Pia author Garrabou, Glòria author González, Juan Ramón author Grinberg, Daniel author Guitart, Maria author Laurie, Steven author Lázaro García, Conxi author Luengo, Cristina author Martí, Ramon A. author Milà, Montserrat author Ovelleiro, David author Parra, Genís author Pujol, Aurora author Tizzano, Eduardo F. author Macaya Ruiz, Alfons author Palau, Francesc author Ribes, Antònia author Pérez-Jurado, Luis Alberto author Beltran i Agulló, Sergi author Schlüter, Agatha author Rodríguez-Palmero, Agustí author Cáceres, Alejandro author Nascimento, Andrés author García-Cazorla, Àngels author Cueto-González, Anna Mª author Marcé-Grau, Anna author Ruiz Nel Lo, Anna author Martínez-Monseny, Antonio author Sánchez, Aurora author García, Belén author Pérez-Dueñas, Belén author Gel, Bernat author Fusté, Berta author Hernández-Ferrer, Carles author Casasnovas, Carlos author Ortez González, Carlos Ignacio author Arjona, César author Hernando Davalillo, Cristina author Natera de Benito, Daniel author Picó Amador, Daniel author Gómez-Andrés, David author Yubero, Délia author Pelegrí-Sisó, Dolors author Verdura, Edgard author García Arumí, Elena author Castellanos, Elisabeth author Gabau, Elisabeth author Tobías, Ester author López-Grondona, Fermina author Cardellach, Francesc author Garcia-Garcia, Francesc Josep author Munell Casadesus, Francina author Tort, Frederic author Aznar, Gemma author Olive Cirera, Gemma author Tell-Martí, Gemma author Muñoz-Pujol, Gerard author Paramonov, Ida author Blanco Guillermo, Ignacio author Madrigal, Irene author Valenzuela, Irene author Gut, Ivo author Cusco, Ivon author Trotta, Jean-Rémi author Cruz, Jordi author Diaz-Manera, Jordi author Milisenda, José César author Ma Grau, Josep author Garcia-Villoria, Judit author Armstrong, Judith author Cantó, Judith author Sala-Coromina, Júlia author Rodríguez-Revenga, Laia author Alías, Laura author Gort, Laura author González Quereda, Lidia author Costa, Mar author Fernández-Callejo, Marcos author López-Sánchez, Marcos author Álvarez Mora, María Isabel author Gut, Marta author Serrano, Mercedes author Raspall-Chaure, Miquel author Del Toro, Mireia author Bayés, Mònica author Baena Díez, Neus author Spataro, Nino author Capdevila, Núria author Ugarteburu, Olatz author Muñoz-Cabello, Patricia author Romero Duque, Penélope author Rabionet, Raquel author Rojas-Garcia, Ricard author Calvo-Escalona, Rosa author Urreizti, Roser author Bernal, Sara author Boronat, Susana author Balcells, Susana author Vendrell, Teresa author Universitat Autònoma de Barcelona author 2022 Altres ajuts: Generalitat de Catalunya, Departament de Salut; Generalitat de Catalunya, Departament d'Empresa i Coneixement i CERCA Program; Ministerio de Ciencia e Innovación; Instituto Nacional de Bioinformática; ELIXIR Implementation Studies (CNAG-CRG); Centro de Investigaciones Biomédicas en Red de Enfermedades Raras; Centro de Excelencia Severo Ochoa; European Regional Development Fund (FEDER). Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. The Undiagnosed Rare Disease Program of Catalonia project collated previously inconclusive good quality genomic data (panels, exomes, and genomes) and standardized phenotypic profiles from 323 families (543 individuals) with a neurologic rare disease. The data were reanalyzed systematically to identify relatedness, runs of homozygosity, consanguinity, single-nucleotide variants, insertions and deletions, and copy number variants. Data were shared and collaboratively interpreted within the consortium through a customized Genome-Phenome Analysis Platform, which also enables future data reinterpretation. Reanalysis of existing genomic data provided a diagnosis for 20.7% of the patients, including 1.8% diagnosed after the generation of additional genomic data to identify a second pathogenic heterozygous variant. Diagnostic rate was significantly higher for family-based exome/genome reanalysis compared with singleton panels. Most new diagnoses were attributable to recent gene-disease associations (50.8%), additional or improved bioinformatic analysis (19.7%), and standardized phenotyping data integrated within the Undiagnosed Rare Disease Program of Catalonia Genome-Phenome Analysis Platform functionalities (18%). Computational Biology Exome Genomics Humans Rare Diseases Whole Exome Sequencing Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases