Diagnostic genomic sequencing in critically ill children Article Swipe
Bernd Auber
,
Gunnar Schmidt
,
Chen Du
,
Sandra von Hardenberg
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1515/medgen-2023-2015
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1515/medgen-2023-2015
Rare genetic diseases are a major cause of severe illnesses and deaths in new-borns and infants. Disease manifestation in critically ill children may be atypical or incomplete, making a monogenetic disease difficult to diagnose clinically. Rapid exome or genome (“genomic”) sequencing in critically ill children demonstrated profound diagnostic and clinical value, and there is growing evidence that the faster a molecular diagnosis is established in such children, the more likely clinical management is influenced positively. An early molecular diagnosis enables treatment of critically ill children with precision medicine, has the potential to improve patient outcome and leads to healthcare cost savings. In this review, we outline the status quo of rapid genomic sequencing and possible future implications.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1515/medgen-2023-2015
- https://www.degruyter.com/document/doi/10.1515/medgen-2023-2015/pdf
- OA Status
- hybrid
- References
- 42
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4380370430
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4380370430Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1515/medgen-2023-2015Digital Object Identifier
- Title
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Diagnostic genomic sequencing in critically ill childrenWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
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2023-06-01Full publication date if available
- Authors
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Bernd Auber, Gunnar Schmidt, Chen Du, Sandra von HardenbergList of authors in order
- Landing page
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https://doi.org/10.1515/medgen-2023-2015Publisher landing page
- PDF URL
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https://www.degruyter.com/document/doi/10.1515/medgen-2023-2015/pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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hybridOpen access status per OpenAlex
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https://www.degruyter.com/document/doi/10.1515/medgen-2023-2015/pdfDirect OA link when available
- Concepts
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Critically ill, Medicine, Exome sequencing, Intensive care medicine, Disease, Human genetics, Precision medicine, Exome, Reproductive medicine, Genetics, Internal medicine, Pathology, Pregnancy, Mutation, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
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42Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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