Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through collaborative research on shared genome-phenome datasets. The RD-Connect Genome-Phenome Analysis Platform (GPAP), for data collation and analysis, and the European Genome-Phenome Archive (EGA), for file storage, a...

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Detalles Bibliográficos
Autores principales: Corvò, Alberto, Matalonga, Leslie, Spalding, Dylan, Senf, Alexander, Laurie, Steven, Picó-Amador, Daniel, Fernandez-Callejo, Marcos, Paramonov, Ida, Romero, Anna Foix, Garcia-Rios, Emilio, Ciges, Jorge Izquierdo, Mohan, Anand, Thomas, Coline, Silva Valencia, Andres Felipe, Halmagyi, Csaba, Freeberg, Mallory Ann, Töpf, Ana, Horvath, Rita, Saunders, Gary, Gut, Ivo, Keane, Thomas, Piscia, Davide, Beltran, Sergi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Technology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932977/
https://www.ncbi.nlm.nih.gov/pubmed/36819661
http://dx.doi.org/10.1016/j.xgen.2022.100246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932977/
https://www.ncbi.nlm.nih.gov/pubmed/36819661
http://dx.doi.org/10.1016/j.xgen.2022.100246

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