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Diagnostics of genetic disorders with whole genome and mRNA sequencing
Gaber Bergant, Borut Peterlin
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Oznake: genetics;genetic diagnostics;genome sequencing;next-generation sequencing;rare disease;RNA sequencing;
Despite the widespread use of exome sequencing (ES), over 60% of patients with suspected genetic diseases remain undiagnosed. Additionally, the precise genetic cause of many rare diseases remains obscure. This study addresses these two challenges using genome sequencing (GS) in patients with suspect ...
Leto: 2025 Vir: Biotehniška fakulteta (UL BF)
Št. zadetkov: 1
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