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Related Experiment Videos

Expression genetics and the phenotype revolution.

Robert W Williams1

  • 1Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, 855 Monroe Avenue, Memphis, TN 38163, USA. rwilliam@nb.utmem.edu

Mammalian Genome : Official Journal of the International Mammalian Genome Society
|June 20, 2006
PubMed
Summary
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Large-scale genetic studies require advanced phenotyping technologies. Ultrahigh-throughput molecular phenotyping, alongside personal genomes, will enable personalized medicine and disease prediction in complex polygenic diseases.

Area of Science:

  • Genomics and Bioinformatics
  • Systems Biology
  • Personalized Medicine

Background:

  • Genetic analysis of variation necessitates large sample sizes and extensive genotyping.
  • Complex polygenic diseases like cancer and diabetes require even larger cohorts for genetic studies.
  • Existing large-scale human genetic projects include DeCode Genetics and the UK BioBank.

Purpose of the Study:

  • To highlight the need for efficient ultrahigh-throughput phenotyping technologies.
  • To emphasize the potential of molecular phenotyping for personalized medicine.
  • To underscore the role of rodent models in validating predictive models and testing treatments.

Main Methods:

  • Leveraging large human populations (e.g., Iceland, UK BioBank) and experimental models (murine Collaborative Cross).

Related Experiment Videos

  • Advancing genotyping technologies and focusing on ultrahigh-throughput phenotyping.
  • Utilizing molecular phenotyping of the transcriptome (mRNA) and maturing proteomic/cell-based assays.

    • Main Results:

    • Significant progress in genotyping technologies.
    • Molecular phenotyping of the transcriptome is now cost-competitive with single nucleotide polymorphism (SNP) genotyping.
    • Proteomic and cell-based assays are rapidly maturing.

    Conclusions:

    • Acquiring a personal genome and molecular phenome is foundational for personalized medicine.
    • Rodent models are crucial for testing the prediction of disease susceptibility and outcomes.
    • Rodent models will also be essential for evaluating new treatments within a systems context that considers genetic variation.