Timothy J O'Leary, Brendan J O'Leary, Dianne P O'Leary
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引用次数: 0
Abstract
The widespread adoption of next-generation sequencing technology in molecular pathology has enabled us to interrogate the genome as never before. The huge quantities of data generated by sequencing, the enormous complexity of human and microbial genetics, and the need for fast answers demand increasing use of automation as we diagnose disease and guide patient treatment. Much of this automation is based on tools that fall under umbrellas that have come to be known as machine learning and artificial intelligence. This review outlines some of the broad ideas that underpin these complex computational methods. It discusses the roles of pathologists and data scientists in generating new tools and factors to keep in mind when adopting these systems for use in molecular pathology. It pays special attention to regulatory and professional society guidance for validating them in individual institutions and to possible sources of bias. Finally, it briefly discusses ongoing efforts in computer science that may dramatically impact artificial intelligence in the future.
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.