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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
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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
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