Exome and Genome Sequencing for the Diagnosis of Rare.

Background: Genetic changes in the germline are the main cause of rare diseases (RD) and represent a significant disease burden in the population. Rapid and comprehensive genetic diagnosis is the key to clinical management. Methods: Whole-genome sequencing was used to diagnose RD in a clinically het...

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Publicado en:	Deutsches Ärzteblatt International Vol. 123; no. 7; pp. 1 - 2
Autores principales:	Elbracht, M., Krause, J., Mattern, L., Güzel, N., Lischka, A., Suh, D. S. J., Knopp, C., Bourgeois, M. G., Beijer, D., D'Augello, S., Haag, N., Rüdebusch, J., Perchalla, E., Lausberg, E., Eggermann, K., Meyer, R., Kraft, F., Begemann, M., Eggermann, T., Kurth, I.
Formato:	Journal Article
Publicado:	Deutscher Aerzte-Verlag GmbH 4/3/2026
Acceso en línea:	Ver este registro en EBSCOhost