test n 1 giorgia

Genomic test

Type: Whole Genome Sequencing
Archiver: Federated European Genome-Phenome Archive (FEGA Italy)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000444	test giorgia 1 xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx	Illumina HiSeq 4000	1

Publications	Citations
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases. 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. Sci Rep 14: 2024 28780	1

Publications

Citations

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.
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. Sci Rep 14: 2024 28780