The Application of Control Materials for Ongoing Quality Management of Next-Generation Sequencing in a Clinical Genetic Laboratory
Next-generation sequencing (NGS) has played an important role in detecting genetic variants with pathologic and therapeutic potential. The advantages of NGS, such as high-throughput sequencing capacity and massively parallel sequencing, have a significant impact on realization of genetic profiling i...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-05-01
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| Series: | Medicina |
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| Online Access: | https://www.mdpi.com/1648-9144/57/6/543 |
| _version_ | 1827691283974455296 |
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| author | Young-Kyu Min Kyung-Sun Park |
| author_facet | Young-Kyu Min Kyung-Sun Park |
| author_sort | Young-Kyu Min |
| collection | DOAJ |
| description | Next-generation sequencing (NGS) has played an important role in detecting genetic variants with pathologic and therapeutic potential. The advantages of NGS, such as high-throughput sequencing capacity and massively parallel sequencing, have a significant impact on realization of genetic profiling in clinical genetic laboratories. These changes have enabled clinicians to execute precision medicine in diagnosis, prognosis, and treatment for patients. However, to adapt targeted gene panels in diagnostic use, analytical validation and ongoing quality control should be implemented and applied with both practical guidelines and appropriate control materials. Several guidelines for NGS quality control recommend usage of control materials such as HapMap cell lines, synthetic DNA fragments, and genetically characterized cell lines; however, specifications or applications of such usage are insufficient to guideline method development. This review focuses on what factors should be considered before control material selection for NGS assay and practical methods of how they could be developed in clinical genetic laboratories. This review also provides the detailed sources of critical information related to control materials. |
| first_indexed | 2024-03-10T10:56:42Z |
| format | Article |
| id | doaj.art-894e8363b49144c18e1d4da1fb33f004 |
| institution | Directory Open Access Journal |
| issn | 1010-660X 1648-9144 |
| language | English |
| last_indexed | 2024-03-10T10:56:42Z |
| publishDate | 2021-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Medicina |
| spelling | doaj.art-894e8363b49144c18e1d4da1fb33f0042023-11-21T21:47:57ZengMDPI AGMedicina1010-660X1648-91442021-05-0157654310.3390/medicina57060543The Application of Control Materials for Ongoing Quality Management of Next-Generation Sequencing in a Clinical Genetic LaboratoryYoung-Kyu Min0Kyung-Sun Park1Department of Medical Laser, Dankook University, Chungnam 31116, KoreaDepartment of Laboratory Medicine, Kyung Hee University School of Medicine and Kyung Hee University Medical Center, Seoul 02447, KoreaNext-generation sequencing (NGS) has played an important role in detecting genetic variants with pathologic and therapeutic potential. The advantages of NGS, such as high-throughput sequencing capacity and massively parallel sequencing, have a significant impact on realization of genetic profiling in clinical genetic laboratories. These changes have enabled clinicians to execute precision medicine in diagnosis, prognosis, and treatment for patients. However, to adapt targeted gene panels in diagnostic use, analytical validation and ongoing quality control should be implemented and applied with both practical guidelines and appropriate control materials. Several guidelines for NGS quality control recommend usage of control materials such as HapMap cell lines, synthetic DNA fragments, and genetically characterized cell lines; however, specifications or applications of such usage are insufficient to guideline method development. This review focuses on what factors should be considered before control material selection for NGS assay and practical methods of how they could be developed in clinical genetic laboratories. This review also provides the detailed sources of critical information related to control materials.https://www.mdpi.com/1648-9144/57/6/543next-generation sequencingquality controlcontrol materialmultiplexing cell lines |
| spellingShingle | Young-Kyu Min Kyung-Sun Park The Application of Control Materials for Ongoing Quality Management of Next-Generation Sequencing in a Clinical Genetic Laboratory Medicina next-generation sequencing quality control control material multiplexing cell lines |
| title | The Application of Control Materials for Ongoing Quality Management of Next-Generation Sequencing in a Clinical Genetic Laboratory |
| title_full | The Application of Control Materials for Ongoing Quality Management of Next-Generation Sequencing in a Clinical Genetic Laboratory |
| title_fullStr | The Application of Control Materials for Ongoing Quality Management of Next-Generation Sequencing in a Clinical Genetic Laboratory |
| title_full_unstemmed | The Application of Control Materials for Ongoing Quality Management of Next-Generation Sequencing in a Clinical Genetic Laboratory |
| title_short | The Application of Control Materials for Ongoing Quality Management of Next-Generation Sequencing in a Clinical Genetic Laboratory |
| title_sort | application of control materials for ongoing quality management of next generation sequencing in a clinical genetic laboratory |
| topic | next-generation sequencing quality control control material multiplexing cell lines |
| url | https://www.mdpi.com/1648-9144/57/6/543 |
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