Whole genome sequencing in clinical practice

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 gen...

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Bibliographic Details
Published in:BMC medical genomics 2024-01, Vol.17 (1), p.39-16, Article 39
Main Authors: Bagger, Frederik Otzen, Borgwardt, Line, Jespersen, Andreas Sand, Hansen, Anna Reimer, Bertelsen, Birgitte, Kodama, Miyako, Nielsen, Finn Cilius
Format: Article
Language:English
Subjects:
Analysis
Automation
Care and treatment
Clinical bioinformatics infrastructure
Clinical medicine
Data processing
Diagnosis
DNA sequencing
Ethylenediaminetetraacetic acid
Functional variant testing
Genetic aspects
Genetic screening
Genetic Testing
Genetic Variation
Genomes
Genomics
Humans
Information sources
Information storage and retrieval
Infrastructure
Laboratories
Medical care, Cost of
Nucleotide sequencing
Patients
Rare diseases
Review
Software
Storage area networks
Variant filtering and interpretation
Whole genome sequencing
Whole Genome Sequencing - methods
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Summary: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 in order to facilitate data processing within a clinically relevant timeframe. The output of a single WGS analyses is roughly 5 MIO variants and data interpretation involves specialized staff collaborating with the clinical specialists in order to provide standard of care reports. Although the field is continuously refining the standards for variant classification, there are still unresolved issues associated with the clinical application. The review provides an overview of WGS in clinical practice - describing the technology and current applications as well as challenges connected with data processing, interpretation and clinical reporting.
ISSN:1755-8794
1755-8794
DOI:10.1186/s12920-024-01795-w