Article
An interconnected data infrastructure to support large-scale rare disease research.
GigaScience - 2 Jan 2024
Johansson Lennart F, Laurie Steve, Spalding Dylan, Gibson Spencer, Ruvolo David, Thomas Coline, Piscia Davide, de Andrade Fernanda, Been Gerieke, Bijlsma Marieke, Brunner Han, 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 K Joeri, Veal Colin, van der Vries Gerben, Wadsley Marc, Warren Gregory, Zurek Birte, Keane Thomas, Graessner Holm, Beltran Sergi, Swertz Morris A, Brookes Anthony J
Abstract excerpt
The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing ("solving") rare diseases (RDs). The project aims to significantly increase the diagnostic success rate by co-analyzing data from thousands of RD cases, including phenotypes, pedigrees, exome/genome sequencing, and multiomics data. Here we...
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