Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases

SCIENTIFIC REPORTS

Slaba, K; Pokorna, P; Jugas, R; Palova, H; Prochazkova, D; Aulicka, S; Spanelova, K; Danhofer, P; Horak, O; Tuckova, J; Kleiblova, P; Gaillyova, R; Hrunka, M; Jouza, M; Pinkova, B; Papez, J; Konecna, P; Zidkova, J; Stourac, P; Sterba, J; Demlova, R; Demlova, E; Jabandziev, P; Slaby, O, 2024: Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases. SCIENTIFIC REPORTS 14(1), doi: 10.1038/s41598-024-79872-4

Research Groups:

Molecular Oncology - Solid Cancer

CEITEC authors:

Petra Pokorná
Robin Jugas, Ph.D.
Hana Pálová, Ph.D.
Prof. Ondřej Slabý, Ph.D.