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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)
Publ. Version/Full Text Postprint DOI
Open Access Green
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
Keywords Association; Risk; Genetics
ISSN (print) / ISBN 0036-8075
e-ISSN 1095-9203
Journal Science
Quellenangaben Volume: 365, Issue: 6460, Pages: 1409-1413 Article Number: , Supplement: ,
Publisher American Association for the Advancement of Science (AAAS)
Publishing Place 1200 New York Ave, Nw, Washington, Dc 20005 Usa
Reviewing status Peer reviewed
Institute(s) Institute of Translational Genomics (ITG)