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Under the hood: developing the engine that drives personalized medicine

Under the hood: developing the engine that drives personalized medicine

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Personalized Medicine (PM) moves away from a "one size fits all" approach to the treatment and care of individuals. PM has a powerful impact in management of disease risks [2], in therapeutic treatments accounting for individual drug efficacy.This approach is transforming medicine by providing an individual's genetic profile that guides decision-making in prevention, diagnosis, and treatment of diseases. This approach also maximizes health benefits and minimizes the risks of disease progres-sion by enabling diagnostic and prognostic information based on genetic profile not previously available.

Chapter Contents:

  • 12.1 Introduction
  • 12.2 Sequencing
  • 12.3 Secondary analysis
  • 12.3.1 False-positive filtering
  • 12.4 Tertiary analysis
  • 12.4.1 Variant annotation
  • 12.4.2 Variant categorization
  • 12.4.3 Prediction scores
  • 12.4.4 Variant prioritization
  • 12.4.5 Further filter options
  • 12.5 Technical implementation
  • 12.5.1 Scalability and parallelization
  • 12.5.2 Handling big data
  • 12.5.3 Validation
  • 12.6 Challenges
  • 12.6.1 Managing updates of published clinical data
  • 12.6.2 Managing changes to data and algorithms
  • 12.7 How this engine will redefine healthcare
  • References

Inspec keywords: medical information systems; risk analysis; patient diagnosis; decision making; diseases; drugs

Other keywords: therapeutic treatments; personalized medicine; genetic profile; drugs; decision-making; diagnosis; prognostic information; disease risks

Subjects: Medical administration; Biology and medical computing

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