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      From Big Data to Precision Medicine

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          Abstract

          For over a decade the term “Big data” has been used to describe the rapid increase in volume, variety and velocity of information available, not just in medical research but in almost every aspect of our lives. As scientists, we now have the capacity to rapidly generate, store and analyse data that, only a few years ago, would have taken many years to compile. However, “Big data” no longer means what it once did. The term has expanded and now refers not to just large data volume, but to our increasing ability to analyse and interpret those data. Tautologies such as “data analytics” and “data science” have emerged to describe approaches to the volume of available information as it grows ever larger. New methods dedicated to improving data collection, storage, cleaning, processing and interpretation continue to be developed, although not always by, or for, medical researchers. Exploiting new tools to extract meaning from large volume information has the potential to drive real change in clinical practice, from personalized therapy and intelligent drug design to population screening and electronic health record mining. As ever, where new technology promises “Big Advances,” significant challenges remain. Here we discuss both the opportunities and challenges posed to biomedical research by our increasing ability to tackle large datasets. Important challenges include the need for standardization of data content, format, and clinical definitions, a heightened need for collaborative networks with sharing of both data and expertise and, perhaps most importantly, a need to reconsider how and when analytic methodology is taught to medical researchers. We also set “Big data” analytics in context: recent advances may appear to promise a revolution, sweeping away conventional approaches to medical science. However, their real promise lies in their synergy with, not replacement of, classical hypothesis-driven methods. The generation of novel, data-driven hypotheses based on interpretable models will always require stringent validation and experimental testing. Thus, hypothesis-generating research founded on large datasets adds to, rather than replaces, traditional hypothesis driven science. Each can benefit from the other and it is through using both that we can improve clinical practice.

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          Most cited references46

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          Methods of integrating data to uncover genotype-phenotype interactions.

          Recent technological advances have expanded the breadth of available omic data, from whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic data. A key goal of analyses of these data is the identification of effective models that predict phenotypic traits and outcomes, elucidating important biomarkers and generating important insights into the genetic underpinnings of the heritability of complex traits. There is still a need for powerful and advanced analysis strategies to fully harness the utility of these comprehensive high-throughput data, identifying true associations and reducing the number of false associations. In this Review, we explore the emerging approaches for data integration - including meta-dimensional and multi-staged analyses - which aim to deepen our understanding of the role of genetics and genomics in complex outcomes. With the use and further development of these approaches, an improved understanding of the relationship between genomic variation and human phenotypes may be revealed.
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                Author and article information

                Contributors
                Journal
                Front Med (Lausanne)
                Front Med (Lausanne)
                Front. Med.
                Frontiers in Medicine
                Frontiers Media S.A.
                2296-858X
                01 March 2019
                2019
                : 6
                : 34
                Affiliations
                [1] 1Department of Professional Health Solutions and Services, Philips Research , Eindhoven, Netherlands
                [2] 2Department of Paediatrics, KK Women's and Children's Hospital, and Paediatric Academic Clinical Programme, Duke-NUS Medical School , Singapore, Singapore
                [3] 3Department of Medical Imaging, University of Toronto , Toronto, ON, Canada
                [4] 4Pharmacy Practice and Science, College of Pharmacy, University of Arizona Health Sciences , Phoenix, AZ, United States
                [5] 5Department of Preventive Medicine, Faculty of Public Health, University of Debrecen , Debrecen, Hungary
                [6] 6Department of Molecular Medicine, Aarhus University Hospital , Aarhus, Denmark
                [7] 7Synthetic Genomics Inc. , La Jolla, CA, United States
                [8] 8Departments of Neurology and Immunobiology, Yale School of Medicine , New Haven, CT, United States
                [9] 9Department of Medicine, University of Cambridge School of Clinical Medicine , Cambridge, United Kingdom
                Author notes

                Edited by: Salvatore Albani, Duke-NUS Medical School, Singapore

                Reviewed by: Manuela Battaglia, San Raffaele Hospital (IRCCS), Italy; Marco Aiello, IRCCS SDN, Italy; Cornelius F. Boerkoel, National Institutes of Health (NIH), United States

                *Correspondence: Tim Hulsen tim.hulsen@ 123456philips.com

                This article was submitted to Translational Medicine, a section of the journal Frontiers in Medicine

                Article
                10.3389/fmed.2019.00034
                6405506
                30881956
                eaf7ee1d-d747-41df-b506-e74c3c1e8074
                Copyright © 2019 Hulsen, Jamuar, Moody, Karnes, Varga, Hedensted, Spreafico, Hafler and McKinney.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

                History
                : 14 July 2018
                : 04 February 2019
                Page count
                Figures: 3, Tables: 2, Equations: 0, References: 81, Pages: 14, Words: 12033
                Categories
                Medicine
                Review

                big data,precision medicine,translational medicine,data science,big data analytics

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