Whole genome sequencing in clinical practice.
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ABSTRACT:
SUBMITTER: Bagger FO
PROVIDER: S-EPMC10823711 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
Publications
Whole genome sequencing in clinical practice.
Bagger Frederik Otzen FO Borgwardt Line L Jespersen Andreas Sand AS Hansen Anna Reimer AR Bertelsen Birgitte B Kodama Miyako M Nielsen Finn Cilius FC
BMC medical genomics 20240129 1
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 data is large and WGS requires a comprehensive computational and storage infrastructure ...[more]
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