Clinical Bioinformatician Body of Knowledge—Bioinformatics and Software Core: A Report of the Association for Molecular Pathology Journal Article

  


Authors: Kadri, S.; Craven, K. E.; Fussell, A. M.; Gee, E. P. S.; Jordan, D.; Klee, E. W.; Krumm, N.; Temple-Smolkin, R. L.; Zehir, A.; Zhang, W.; Sboner, A.
Article Title: Clinical Bioinformatician Body of Knowledge—Bioinformatics and Software Core: A Report of the Association for Molecular Pathology
Abstract: With the evolution of next-generation sequencing–based testing in molecular diagnostics laboratories, the clinical role of bioinformaticians has also evolved. The Association for Molecular Pathology's Clinical Bioinformatician Body of Knowledge aims to define the various roles the clinical bioinformatician operates individually or within a clinical bioinformatics team, along with proficiencies and skill sets that may be required or desirable across these roles. One of the most common professional responsibilities of a clinical bioinformatician is to implement bioinformatics pipelines, either vendor supplied or custom built for the assays in the molecular diagnostics laboratory, along with analysis and quality control of clinical genomics data. This second article in the series describes the various stages in the life cycle of a clinical bioinformatics pipeline and the considerations, areas of expertise, and skill sets required in each stage. This information may help laboratory professionals to better work with clinical bioinformaticians and laboratory directors to hire the appropriate expertise based on the specific needs of the laboratory. © 2025 Association for Molecular Pathology and American Society for Investigative Pathology
Keywords: major clinical study; review; quality control; diagnosis; bioinformatics; software; knowledge; etiology; molecular pathology; molecular diagnostics; high throughput sequencing; human; laboratory personnel; bioinformatician
Journal Title: Journal of Molecular Diagnostics
Volume: 27
Issue: 7
ISSN: 1525-1578
Publisher: Elsevier Science, Inc.  
Date Published: 2025-01-01
Start Page: 566
End Page: 582
Language: English
DOI: 10.1016/j.jmoldx.2025.04.008
PUBMED: 40398560
PROVIDER: scopus
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-105007987681&doi=10.1016%2fj.jmoldx.2025.04.008&partnerID=40&md5=2b1f5a359e89f03f8cff52c9f8087dc2
Notes: Review -- Source: Scopus
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