Englander Institute for Precision Medicine

Clinical Bioinformatician Body of Knowledge-Bioinformatics and Software Core: A Report of the Association for Molecular Pathology.

TitleClinical Bioinformatician Body of Knowledge-Bioinformatics and Software Core: A Report of the Association for Molecular Pathology.
Publication TypeJournal Article
Year of Publication2025
AuthorsKadri S, Craven KE, Fussell AM, Gee EPS, Jordan D, Klee EW, Krumm N, Temple-Smolkin RL, Zehir A, Zhang W, Sboner A
JournalJ Mol Diagn
Date Published2025 May 19
ISSN1943-7811
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.

DOI10.1016/j.jmoldx.2025.04.008
Alternate JournalJ Mol Diagn
PubMed ID40398560

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