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Article

Whole genome sequencing in clinical practice.

BMC medical genomics - 29 Jan 2024

Bagger Frederik Otzen, Borgwardt Line, Jespersen Andreas Sand, Hansen Anna Reimer, Bertelsen Birgitte, Kodama Miyako, Nielsen Finn Cilius

Abstract excerpt

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 sequential genetic testing. Whereas, the laboratory requirements are similar to conventional molecular genetics, the amount of...

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Identifiers

PMID: 38287327
DOI: 10.1186/s12920-024-01795-w
PMCID: PMC10823711

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