Translating exome sequencing from research to clinical diagnostics
Abstract: In the relatively short time frame since the introduction of next generation sequencing, it has become a method of choice for complex genomic research studies. As a paradigm shifting technology, we are now witnessing its translation into clinical diagnostic laboratories for patient care. Multi-gene panels for a variety of disorders are now available in several clinical laboratories based on targeted gene enrichment followed by next generation sequencing. Genome wide interrogation of protein coding regions, or exome sequencing, has been successfully and increasingly applied in the research setting for the elucidation of candidate genes and causal variants in individuals and families with a diversity of rare and complex genetic disorders. Based on this progress, exome sequencing is also beginning a translational process into clinical practice. However, introducing exome sequencing as a diagnostic modality poses new technical and bioinformatics challenges for clinical laboratories. In this review, we present technical and bioinformatics aspects of exome sequencing, describe representative examples from the literature of how exome sequencing has been used for candidate gene discovery, and discuss considerations for its clinical translation.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Translating exome sequencing from research to clinical diagnostics ; volume:50 ; number:7 ; year:2012 ; pages:1161-1168
Clinical chemistry and laboratory medicine ; 50, Heft 7 (2012), 1161-1168
- Creator
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Coonrod, Emily M.
Margraf, Rebecca L.
Voelkerding, Karl V.
- DOI
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10.1515/cclm-2011-0841
- URN
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urn:nbn:de:101:1-2022053114451118427750
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:20 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Coonrod, Emily M.
- Margraf, Rebecca L.
- Voelkerding, Karl V.
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