Annette Leon, Eduardo Castro-Echeverry, Amber M Fussell, Danielle Jordan, Nefize S Kip, Angshumoy Roy, Carlos J Suarez, Robyn L Temple-Smolkin, Joshua Coleman
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引用次数: 0
Abstract
Clinical bioinformaticians play a critical role in clinical molecular diagnostics laboratories as developers of data analysis pipelines, tools, and databases. They also contribute to a variety of other tasks, such as genomic data interpretation, database administration, hardware engineering, informatics, information technology, infrastructure support, and software engineering. To effectively perform these functions, the clinical bioinformaticians must possess a strong foundational knowledge of molecular biology, genetics, genomics, computational biology, and the relevant federal, state, and/or regional regulations, laboratory accreditation requirements, and other standards and best practices. This first article in the Association for Molecular Pathology's Clinical Bioinformatician Body of Knowledge series provides a comprehensive core knowledge base on molecular biology, genetics, genomics, clinical laboratory practices, sequencing technologies, databases, and clinical applications. This resource serves not only to equip clinical bioinformaticians for their professional roles but also as a valuable reference for laboratorians.
期刊介绍:
The Journal of Molecular Diagnostics, the official publication of the Association for Molecular Pathology (AMP), co-owned by the American Society for Investigative Pathology (ASIP), seeks to publish high quality original papers on scientific advances in the translation and validation of molecular discoveries in medicine into the clinical diagnostic setting, and the description and application of technological advances in the field of molecular diagnostic medicine. The editors welcome for review articles that contain: novel discoveries or clinicopathologic correlations including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, clinical informatics, or the description of polymorphisms linked to disease states or normal variations; the application of diagnostic methodologies in clinical trials; or the development of new or improved molecular methods which may be applied to diagnosis or monitoring of disease or disease predisposition.