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Machine learning for precision medicine

Sarah J. MacEachern, Nils D. Forkert
Genome 2021 v.64 no.4 pp. 416-425
artificial intelligence, biomedical research, data collection, genome, genomics, human health, multiomics, patient care, precision medicine, statistics
Precision medicine is an emerging approach to clinical research and patient care that focuses on understanding and treating disease by integrating multi-modal or multi-omics data from an individual to make patient-tailored decisions. With the large and complex datasets generated using precision medicine diagnostic approaches, novel techniques to process and understand these complex data were needed. At the same time, computer science has progressed rapidly to develop techniques that enable the storage, processing, and analysis of these complex datasets, a feat that traditional statistics and early computing technologies could not accomplish. Machine learning, a branch of artificial intelligence, is a computer science methodology that aims to identify complex patterns in data that can be used to make predictions or classifications on new unseen data or for advanced exploratory data analysis. Machine learning analysis of precision medicine’s multi-modal data allows for broad analysis of large datasets and ultimately a greater understanding of human health and disease. This review focuses on machine learning utilization for precision medicine’s “big data”, in the context of genetics, genomics, and beyond.