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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Ngā kaituhi matua:	Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	BMC 2024-01-01
Rangatū:	BMC Medical Genomics
Ngā marau:	Whole genome sequencing Clinical bioinformatics infrastructure Variant filtering and interpretation Functional variant testing
Urunga tuihono:	https://doi.org/10.1186/s12920-024-01795-w
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!

Whole genome sequencing in clinical practice

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