Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline
The potential of genome sequencing (GS), which allows detection of almost all types of genetic variation across nearly the entire genome of an individual, greatly expands the possibility for diagnosing genetic disorders. The opportunities provided with this single test are enticing to researchers an...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-01-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/15/1/136 |
| _version_ | 1797343758105182208 |
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| author | Joohyun Park Marc Sturm Olga Seibel-Kelemen Stephan Ossowski Tobias B. Haack |
| author_facet | Joohyun Park Marc Sturm Olga Seibel-Kelemen Stephan Ossowski Tobias B. Haack |
| author_sort | Joohyun Park |
| collection | DOAJ |
| description | The potential of genome sequencing (GS), which allows detection of almost all types of genetic variation across nearly the entire genome of an individual, greatly expands the possibility for diagnosing genetic disorders. The opportunities provided with this single test are enticing to researchers and clinicians worldwide for human genetic research as well as clinical application. Multiple studies have highlighted the advantages of GS for genetic variant discovery, emphasizing its added value for routine clinical use. We have implemented GS as first-line genetic testing for patients with rare diseases. Here, we report on our experiences in establishing GS as a reliable diagnostic method for almost all types of genetic disorders, from validating diagnostic accuracy of sequencing pipelines to clinical implementation in routine practice. |
| first_indexed | 2024-03-08T10:52:28Z |
| format | Article |
| id | doaj.art-9bd353d2c7d8480d83938830dbfe6d60 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-08T10:52:28Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-9bd353d2c7d8480d83938830dbfe6d602024-01-26T16:44:22ZengMDPI AGGenes2073-44252024-01-0115113610.3390/genes15010136Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic PipelineJoohyun Park0Marc Sturm1Olga Seibel-Kelemen2Stephan Ossowski3Tobias B. Haack4Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, GermanyInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, GermanyInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, GermanyInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, GermanyInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, GermanyThe potential of genome sequencing (GS), which allows detection of almost all types of genetic variation across nearly the entire genome of an individual, greatly expands the possibility for diagnosing genetic disorders. The opportunities provided with this single test are enticing to researchers and clinicians worldwide for human genetic research as well as clinical application. Multiple studies have highlighted the advantages of GS for genetic variant discovery, emphasizing its added value for routine clinical use. We have implemented GS as first-line genetic testing for patients with rare diseases. Here, we report on our experiences in establishing GS as a reliable diagnostic method for almost all types of genetic disorders, from validating diagnostic accuracy of sequencing pipelines to clinical implementation in routine practice.https://www.mdpi.com/2073-4425/15/1/136genetic diagnosticsgenome sequencingmolecular diagnostics |
| spellingShingle | Joohyun Park Marc Sturm Olga Seibel-Kelemen Stephan Ossowski Tobias B. Haack Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline Genes genetic diagnostics genome sequencing molecular diagnostics |
| title | Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline |
| title_full | Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline |
| title_fullStr | Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline |
| title_full_unstemmed | Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline |
| title_short | Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline |
| title_sort | lessons learned from translating genome sequencing to clinical routine understanding the accuracy of a diagnostic pipeline |
| topic | genetic diagnostics genome sequencing molecular diagnostics |
| url | https://www.mdpi.com/2073-4425/15/1/136 |
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