Imaging genomics: data fusion in uncovering disease heritability |
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| Affiliation: | 1. Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA, USA;2. Stanford Center for Biomedical Informatics Research, Department of Medicine, Stanford University, Stanford, CA, USA;3. College of Medicine, Drexel University, Philadelphia, PA, USA;4. Department of Computer Architecture and Technology, University of Granada. C.I.T.I.C., Granada, Spain;1. Alzheimer’s Disease & Brain Health, Eisai Inc., Nutley, NJ, USA;2. Chambers-Grundy Center for Transformative Neuroscience, Department of Brain Health, School of Integrated Health Sciences, University of Nevada Las Vegas (UNLV), Las Vegas, NV, USA;3. Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy;4. Athinoula A. Martinos Center for Biomedical Imaging and Harvard Medical School, Boston, MA, USA;5. Imaging Genetics Center, Mark & Mary Stevens Institute for Neuroimaging & Informatics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA;1. Miami Cancer Institute, Baptist Health South Florida, Miami, FL, USA;2. Center for Genomic and Regenerative Medicine, Far Eastern Federal University, Vladivostok, Primorsky Krai, Russia;3. Department of Pharmaceutics, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi, Ghana;4. Institute of Biotechnology, Gebze Technical University, Gebze, Turkey;5. Biopharmaceutical Unit, Centre for Biomedical and Biomaterials Research, University of Mauritius, Réduit, Republic of Mauritius;6. Department of Pedagogical, Curricular and Professional Studies, Faculty of Education, University of Gothenburg, Gothenburg, Sweden;7. Institute of Oceanology of Polish Academy of Sciences, Powstańców Warszawy, Warsaw, Poland;8. Division of Pharmaceutics and Pharmacokinetics, Council of Scientific and Industrial Research (CSIR) Central Drug Research Institute, Lucknow, Uttar Pradesh, India;9. Environmental Engineering Department, Sultan Moulay Slimane University, Beni-Mellal, Béni Mellal-Khénifra, Morocco;10. Department of Biological Sciences, College of Science, University of Santo Tomas, Manila, Philippines;11. ?zmir Institute of Technology, Department of Molecular Biology and Genetics, ?zmir, Turkey;12. Institute for Biological Research ''Sini?a Stankovi?'', National Institute of the Republic of Serbia, University of Belgrade, Belgrade, Serbia;13. University of Southern Queensland, Institute for Agriculture and the Environment, Toowoomba, Queensland, Australia;14. Department of Aquaculture and Fisheries, Agricultural University of Tirana, Tirana, Albania;15. Department of Biology, University of Fribourg, Fribourg, Switzerland;16. Centre for Regenerative Medicine, Institute for Regeneration and Repair, University of Edinburgh, Edinburgh, UK;17. Department of Life and Health Sciences, University of Nicosia, Nicosia, Cyprus;18. Synthetic and Systems Biology for Biomedicine Lab, Istituto Italiano di Tecnologia, Naples, Italy;19. Cancer Research at UCC, University College Cork, Cork, Ireland;1. Precision Research Center for Refractory Diseases, Institute for Clinical Research, Shanghai Jiao Tong University School of Medicine, Shanghai 201620, China;2. Ministry of Education (MOE) Key Laboratory of Metabolism and Molecular Medicine, Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Fudan University, Shanghai, China;1. Service des Maladies Respiratoires, CHU Reims, France;2. Service de Médecine Physique et Réadaptation, CHU Reims, France;3. Département de Méthodologie, CHU Reims, France;4. INSERM UMRS-1250, Université Reims Champagne Ardenne, Reims, France;5. UR3797, VieFra, Université de Reims Champagne Ardenne, Reims, France |
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| Abstract: | Sequencing of the human genome in the early 2000s enabled probing of the genetic basis of disease on a scale previously unimaginable. Now, two decades later, after interrogating millions of markers in thousands of individuals, a significant portion of disease heritability still remains hidden. Recent efforts to unravel this ‘missing heritability’ have focused on garnering new insight from merging different data types, including medical imaging. Imaging offers promising intermediate phenotypes to bridge the gap between genetic variation and disease pathology. In this review we outline this fusion and provide examples of imaging genomics in a range of diseases, from oncology to cardiovascular and neurodegenerative disease. Finally, we discuss how ongoing revolutions in data science and sharing are primed to advance the field. |
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