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Št. zadetkov: 2
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
German Demidov, Burcu Yaldiz, José García Peláez, Elke De Boer, Nika Schuermans, Borut Peterlin
Izvirni znanstveni članek
Oznake: rare diseases;reanalysis;copy number variant;disease-causing variants;
We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research group ...
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke De Boer, Kiran Polavarapu, Nika Schuermans, Anna K. Sommer, German Demidov, Aleš Maver, Borut Peterlin
Izvirni znanstveni članek
Oznake: rare diseases;identification;interpretation;genetic diagnosis;genomic variants;
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 2
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