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Commentary
Nature Genetics  34, 15 - 21 (2003)
doi:10.1038/ng0503-15

The Human Phenome Project

Nelson Freimer1, 2, 3 & Chiara Sabatti3, 4

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

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

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

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

Correspondence should be addressed to Nelson Freimer nfreimer@mednet.ucla.edu
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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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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