Whole genome sequencing in clinical practice

Abstract Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Compared to other molecular genetic methods, WGS captures most genomic variation and eliminates the need for seque...

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Autors principals:	Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-01-01
Col·lecció:	BMC Medical Genomics
Matèries:	Whole genome sequencing Clinical bioinformatics infrastructure Variant filtering and interpretation Functional variant testing
Accés en línia:	https://doi.org/10.1186/s12920-024-01795-w
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