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Št. zadetkov: 2
Diagnostics of genetic disorders with whole genome and mRNA sequencing
Gaber Bergant, Borut Peterlin
Doktorska disertacija
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)
Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population
Aleš Maver, Peter Juvan, Urška Kotnik, Luca Lovrečić, Gaber Bergant, Borut Peterlin
Izvirni znanstveni članek
Oznake: population genomic variation;whole genome sequencing;genome browser;Slovenian genome database;
The genomic data of Central European populations is underrepresented in the publicly available databases. We present the comprehensive genomic variation of the Slovenian population, based on the genomic sequencing of 9425 non-related individuals, i.e. more than 0.44% of the Slovenian population. Ove ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 2
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