Titre:
  • An interconnected data infrastructure to support large-scale rare disease research.
Auteur:Johansson, Lennart F; Laurie, Steve; Spalding, Dylan; Gibson, Spencer B.; Ruvolo, David; Thomas, Coline; Piscia, Davide; de Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner La Rocca, Hans Peter; Cimerman, Sandi; Dizjikan, Farid Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; van de Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; van der Velde, Joeri KJ; Veal, Colin; Solve-RD Consortium, Sarah; Duerinckx, Gerben; van der Vries, Marc; Wadsley, Gregory; Warren, Birte; Zurek, Thomas; Keane, Holm; Graessner, Sergi; Beltran, Morris MA; Swertz, Anthony AJ; Brookes,
Informations sur la publication:GigaScience, 13
Statut de publication:Publié, 2024-01-01
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:bioinformatics
computational biology
fair data
genetics
infrastructure
rare disease
MeSH keywords:Rare Diseases -- genetics
Humans
Databases, Genetic
Phenotype
Metadata
Computational Biology -- methods
Genomics -- methods
Langue:Anglais
Identificateurs:urn:issn:2047-217X
info:doi/10.1093/gigascience/giae058
info:pii/7762471
info:pmid/39302238
PMC11413801