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Comprehensive Copy Number Variant Analysis of 11,000 Previously Unsolved Rare Disease Exome Sequencing Datasets Within the Solve-RD Project Results in Diagnoses Being Reached for 2% of Previously Unsolved Cases

German Demidov,Burcu Yaldiz,Francesco Musacchia,Lennart Johansson,Ida Paramonov,J. Garcia-Pelaez,Elisa Benetti, Gemma Bullich Vilanova,Elke De Boer,Nika Schuermans,Ana Topf,Liedewei van de Vondel,Jana Vandrovcova,Carla Oliveira,Lisenka Vissers,Stephan Ossowski,Steven Laurie

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

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