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Autor:
Virginie Raclet, Julien Van-Gils, Eulalie Lasseaux, Thibaut Matis, Benoit Arveiler, Patricia Fergelot, Vincent Michaud, Aurélien Trimouille, Claudio Plaisant
Publikováno v:
The journal of gene medicineREFERENCES. 22(8)
BACKGROUND The development of whole-exome sequencing (WES) and whole-genome sequencing (WGS) for clinical purposes now allows the identification of multiple pathogenic variants in patients with a rare disease. This occurs even when a single causative