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

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

Summary: 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 s...

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Bibliographic Details
Main Authors: Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Daniel Picó-Amador, Marcos Fernandez-Callejo, Ida Paramonov, Anna Foix Romero, Emilio Garcia-Rios, Jorge Izquierdo Ciges, Anand Mohan, Coline Thomas, Andres Felipe Silva Valencia, Csaba Halmagyi, Mallory Ann Freeberg, Ana Töpf, Rita Horvath, Gary Saunders, Ivo Gut, Thomas Keane, Davide Piscia, Sergi Beltran
Format: Article
Language:English
Published: Elsevier 2023-02-01
Series:Cell Genomics
Subjects:
genome analysis
exome analysis
data sharing
data visualization
federated infrastructures
remote data access
Online Access:http://www.sciencedirect.com/science/article/pii/S2666979X22002099

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http://www.sciencedirect.com/science/article/pii/S2666979X22002099

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