TY  - GEN
AU  - Matalonga, Leslie
AU  - Hernández-Ferrer, Carles
AU  - Piscia, Davide
AU  - Schüle, Rebecca
AU  - Synofzik, Matthis
AU  - Töpf, Ana
AU  - Vissers, Lisenka E L M
AU  - de Voer, Richarda
AU  - Tonda, Raul
AU  - Laurie, Steven
AU  - Fernández-Callejo, Marcos
AU  - Picó, Daniel
AU  - Garcia-Linares, Carles
AU  - Papakonstantinou, Anastasios
AU  - Corvó, Alberto
AU  - Joshi, Ricky
AU  - Diez, Hector
AU  - Gut, Ivo
AU  - Hoischen, Alexander
AU  - Graessner, Holm
AU  - Beltran, Sergi
AU  - Solve-RD Consortia
AU  - Cuesta de la Plaza, Isabel
AU  - Lopez-Martin, Estrella
AU  - Posada De la Paz, Manuel
AU  - Bermejo-Sanchez, Eva
AU  - Martinez-Delgado, Beatriz
AU  - Alonso, Javier
PY  - 2021
DO  - 10.1038/s41431-021-00852-7
UR  - http://hdl.handle.net/20.500.12105/14985
AB  - Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The...
LA  - eng
PB  - Nature Publishing Group
KW  - Software
KW  - Genetic Testing
KW  - Genomics
KW  - Humans
KW  - Pedigree
KW  - Rare Diseases
TI  - Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
TY  - research article
ER  -