Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Authors: German Demidov, Burcu Yaldiz, José Garcia-Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltran, Christian Gilissen, Alexander Hoischen, Stephan Ossowski, Richarda de Voer, Katja Lohmann, Carla Oliveira, Ana Topf, Lisenka E. L. M. Vissers, Solve-RD Consortium, Steven Laurie

Source: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/4d88b3c6b5114df2a433fd422b818ed2