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Phenomics: the systematic study of phenotypes on a genome-wide scale
R M Bilder1, F W Sabb, T D Cannon
1Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine at University of California, Los Angeles, CA, USA. rbilder@mednet.ucla.edu
Neuroscience
|April 7, 2009
Summary
Phenomics systematically studies phenotypes on a genome-wide scale, linking genetic variation to health. Developing new frameworks and web-based assessments promises to advance personalized medicine and neuropsychiatric disorder diagnosis.
Area of Science:
- Phenomics, a transdiscipline focused on genome-wide phenotype study.
Background:
- High-throughput genotyping shifts research focus to phenotyping.
- The human phenome's vastness and dimensionality are largely unknown.
- Linking genetic variation to public health requires mechanistic frameworks connecting neural systems and behavior.
Purpose of the Study:
- To advance phenomics research by developing new phenotype definition approaches.
- To explore dynamic phenotyping through web-based behavioral assessment.
- To facilitate multi-level phenomics hypothesis testing.
Main Methods:
- Integrating proteomic to syndromic levels of expression.
- Crossing neuropsychiatric syndromal boundaries for broader phenotype definition.
- Utilizing web-based behavioral assessments for high-throughput phenotyping.
- Leveraging cross-species studies and transgenic modeling.
- Employing vertically integrated research teams and novel analytic strategies.
Main Results:
- Development of informatics infrastructure for managing phenomics complexity.
- Illustration of phenomics principles by the Consortium for Neuropsychiatric Phenomics at UCLA.
- Creation of applications for assembling, visualizing, and testing multi-level phenomics hypotheses.
Conclusions:
- Phenomics research, through large-scale collaborations, promises systematic knowledge bases.
- Advancements in phenomics will support personalized medicine.
- Systematic phenotyping offers potential for rational diagnosis and treatment of neuropsychiatric syndromes.
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