Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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Authors: Matalonga, Leslie; Hernández-Ferrer, Carles; Piscia, Davide; Schüle, Rebecca; Synofzik, Matthis; Töpf, Ana; Vissers, Lisenka E. L. M.; de Voer, Richarda; Tonda, Raul; Laurie, Steven; Fernandez-Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou, Anastasios; Corvó, Alberto; Joshi, Ricky; Diez, Hector; Gut, Ivo; Hoischen, Alexander; Graessner, Holm; Beltran, Sergi; Cohen, En

Journal title: European journal of human genetics

Journal number: 1

Journal publisher: Eur J Hum Genet

Published year: 2021

DOI identifier: 10.1038/s41431-021-00852-7