Zeggini, E. ; Gloyn, A.L.* ; Barton, A.C.* ; Wain, L.V.*
Translational genomics and precision medicine: Moving from the lab to the clinic.
Science 365, 1409-1413 (2019)
Translational genomics aims to improve human health by building on discoveries made through genetics research and applying them in the clinical setting. This progress has been made possible by technological advances in genomics and analytics and by the digital revolution. Such advances should enable the development of prognostic markers, tailored interventions, and the design of prophylactic preventive approaches. We are at the cusp of predicting disease risk for some disorders by means of polygenic risk scores integrated with classical epidemiological risk factors. This should lead to better risk stratification and clinical decision-making. A deeper understanding of the link between genome-wide sequence and association with well-characterized phenotypes will empower the development of biomarkers to aid diagnosis, inform disease progression trajectories. and allow better targeting of treatments to those patients most likely to respond.
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Publication type
Article: Journal article
Document type
Review
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Keywords
Association; Risk; Genetics
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Language
english
Publication Year
2019
Prepublished in Year
0
HGF-reported in Year
2019
ISSN (print) / ISBN
0036-8075
e-ISSN
1095-9203
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Volume: 365,
Issue: 6460,
Pages: 1409-1413
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American Association for the Advancement of Science (AAAS)
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1200 New York Ave, Nw, Washington, Dc 20005 Usa
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Reviewing status
Peer reviewed
Institute(s)
Institute of Translational Genomics (ITG)
POF-Topic(s)
30205 - Bioengineering and Digital Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-506700-001
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Erfassungsdatum
2019-10-11