The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
Translational genomics and precision medicine: Moving from the lab to the clinic
Open accessAbstract
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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Citations
Cites
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Drug repurposing: progress, challenges and recommendations
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Self-citationThe support of human genetic evidence for approved drug indications
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“As such, implementation of GRS for targeting of disease screening requires careful consideration in terms of which thresholds of risk are selected as the basis for screening decisions and the added value beyond clinical information alone (36).”
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Self-citationGenetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease
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Cited by
Applications of multi‐omics analysis in human diseases
Chen, C., Wang, J., Pan, D., Wang, X., Xu, Y., Yan, J., Wang, L., Yang, X., Yang, M., & Liu, G. (2023) · MedComm · doi:10.1002/mco2.315 · Cited by 545
The DisGeNET cytoscape app: Exploring and visualizing disease genomics data
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Functionally informed fine-mapping and polygenic localization of complex trait heritability
Weissbrod, O., Hormozdiari, F., Benner, C., Cui, R., Ulirsch, J., Gazal, S., Schoech, A. P., van de Geijn, B., Reshef, Y., Márquez-Luna, C., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-00735-5 · Cited by 364
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Jagadeesh, K. A., Dey, K. K., Montoro, D. T., Mohan, R., Gazal, S., Engreitz, J. M., Xavier, R. J., Price, A. L., & Regev, A. (2022) · Nature Genetics · doi:10.1038/s41588-022-01187-9 · Cited by 239
Metadata
- Authors
- Zeggini, E., Gloyn, A. L., Barton, A. C., & Wain, L. V.
- Venue
- Science
- Published
- 2019-09-27
- Volume
- 365
- Issue
- 6460
- Pages
- 1409-1413
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2975979350
- Cited by
- 185
- References
- 17
- FWCI
- 13.54
- Type
- journal article
- Language
- en
- Open access
- green
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- Zeggini, E., Gloyn, A. L., Barton, A. C., & Wain, L. V. (2019). Translational genomics and precision medicine: Moving from the lab to the clinic. Science. https://doi.org/10.1126/science.aax4588
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
