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The Human Phenome Project

Nature Genetics volume 34, pages 15–21 (2003)Cite this article

A principal goal of genetic research is to identify specific genotypes that are associated with human phenotypes. It will soon be possible to conduct genome-wide genotyping on a massive scale. Our current approaches for defining and assaying phenotypes may be inadequate for making optimal use of such genotypic data. We propose an international effort to create phenomic databases, that is, comprehensive assemblages of systematically collected phenotypic information, and to develop new approaches for analyzing such phenotypic data. We term this effort the Human Phenome Project and suggest a scientific and organizational scope for the project.

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Figure 1: The phenomic approach in a non-human primate.
Figure 2: The phenomic approach in birth cohort studies.

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Acknowledgements

We thank S. Blower, L. Sandkuijl and S. Service for comments. The authors are supported by grants from the US National Institutes of Health.

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Authors and Affiliations

  1. Center for Neurobehavioral Genetics, Neuropsychiatric Institute, Gonda Building Room 3506, 695 Charles E. Young Drive South, Los Angeles, 90095, California, USA

    Nelson Freimer

  2. Brain Research Institute, University of California Los Angeles, Los Angeles, 90095, California, USA

    Nelson Freimer

  3. Department of Human Genetics, University of California Los Angeles, Los Angeles, 90095, California, USA

    Nelson Freimer & Chiara Sabatti

  4. Department of Statistics, University of California Los Angeles, Los Angeles, 90095, California, USA

    Chiara Sabatti

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  1. Nelson Freimer
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  2. Chiara Sabatti
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Correspondence to Nelson Freimer.

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Freimer, N., Sabatti, C. The Human Phenome Project. Nat Genet 34, 15–21 (2003). https://doi.org/10.1038/ng0503-15

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