The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Phenomics: the systematic study of phenotypes on a genome-wide scale
Open accessAbstract
Phenomics is an emerging transdiscipline dedicated to the systematic study of phenotypes on a genome-wide scale. New methods for high-throughput genotyping have changed the priority for biomedical research to phenotyping, but the human phenome is vast and its dimensionality remains unknown. Phenomics research strategies capable of linking genetic variation to public health concerns need to prioritize development of mechanistic frameworks that relate neural systems functioning to human behavior. New approaches to phenotype definition will benefit from crossing neuropsychiatric syndromal boundaries, and defining phenotypic features across multiple levels of expression from proteome to syndrome. The demand for high throughput phenotyping may stimulate a migration from conventional laboratory to web-based assessment of behavior, and this offers the promise of dynamic phenotyping –the iterative refinement of phenotype assays based on prior genotype-phenotype associations. Phenotypes that can be studied across species may provide greatest traction, particularly given rapid development in transgenic modeling. Phenomics research demands vertically integrated research teams, novel analytic strategies and informatics infrastructure to help manage complexity. The Consortium for Neuropsychiatric Phenomics at UCLA has been supported by the NIH Roadmap Initiative to illustrate these principles, and is developing applications that may help investigators assemble, visualize, and ultimately test multi-level phenomics hypotheses. As the transdiscipline of phenomics matures, and work is extended to large-scale international collaborations, there is promise that systematic new knowledgebases will help fulfill the promise of personalized medicine and the rational diagnosis and treatment of neuropsychiatric syndromes.
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Cites
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Cited by
Houle, D., Govindaraju, D. R., & Omholt, S. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2897 · Cited by 1,279
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations
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Common disorders are quantitative traits
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Somatosensory-Motor Dysconnectivity Spans Multiple Transdiagnostic Dimensions of Psychopathology
Kebets, V., Holmes, A. J., Orban, C., Tang, S., Li, J., Sun, N., Kong, R., Poldrack, R. A., & Yeo, B. T. T. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.06.013 · Cited by 283
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Metadata
- Authors
- Bilder, R. M., Sabb, F. W., Cannon, T. D., London, E. D., Jentsch, J. D., Parker, D. S., Poldrack, R. A., Evans, C., & Freimer, N. B.
- Venue
- Neuroscience
- Publisher
- Elsevier BV
- Published
- 2009-11
- Volume
- 164
- Issue
- 1
- Pages
- 30-42
- ISSN
- 0306-4522 (ISSN-L)
- OpenAlex
- W1981323832
- Cited by
- 235
- References
- 14
- FWCI
- 9.80
- Type
- journal article
- Language
- en
- Open access
- green
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- Bilder, R. M., Sabb, F. W., Cannon, T. D., London, E. D., Jentsch, J. D., Parker, D. S., Poldrack, R. A., Evans, C., & Freimer, N. B. (2009). Phenomics: the systematic study of phenotypes on a genome-wide scale. Neuroscience. https://doi.org/10.1016/j.neuroscience.2009.01.027
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