Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines
| Autor: | Karl V. Voelkerding, Mrudula Pullambhatla, Eric W. Klee, Alexis B. Carter, Robyn L. Temple-Smolkin, Stephen E Lincoln, Chen Wang, Christopher Coldren, Arivarasan Karunamurthy, Annette Leon, Nefize S. Kip, Somak Roy |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Computer science Molecular pathology business.industry Association (object-oriented programming) Best practice MEDLINE Bioinformatics Pipeline (software) Health informatics Pathology and Forensic Medicine Unmet needs 03 medical and health sciences 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis Molecular Medicine Disease management (health) business |
| Zdroj: | The Journal of Molecular Diagnostics. 20:4-27 |
| ISSN: | 1525-1578 |
| DOI: | 10.1016/j.jmoldx.2017.11.003 |
| Popis: | Bioinformatics pipelines are an integral component of next-generation sequencing (NGS). Processing raw sequence data to detect genomic alterations has significant impact on disease management and patient care. Because of the lack of published guidance, there is currently a high degree of variability in how members of the global molecular genetics and pathology community establish and validate bioinformatics pipelines. Improperly developed, validated, and/or monitored pipelines may generate inaccurate results that may have negative consequences for patient care. To address this unmet need, the Association of Molecular Pathology, with organizational representation from the College of American Pathologists and the American Medical Informatics Association, has developed a set of 17 best practice consensus recommendations for the validation of clinical NGS bioinformatics pipelines. Recommendations include practical guidance for laboratories regarding NGS bioinformatics pipeline design, development, and operation, with additional emphasis on the role of a properly trained and qualified molecular professional to achieve optimal NGS testing quality. |
| Databáze: | OpenAIRE |
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