Human Disease

  1. Jonathan Pevsner

Published Online: 28 JAN 2005

DOI: 10.1002/047145916X.ch18

Book Title

Bioinformatics and Functional Genomics

Bioinformatics and Functional Genomics

Additional Information

How to Cite

Pevsner, J. (2005) Human Disease, in Bioinformatics and Functional Genomics, John Wiley & Sons, Inc., Hoboken, NJ, USA. doi: 10.1002/047145916X.ch18

Publication History

  1. Published Online: 28 JAN 2005
  2. Published Print: 18 JUN 2004

ISBN Information

Print ISBN: 9780471210047

Online ISBN: 9780471459163

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CHAPTER TOOLS

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Keywords:

  • human genetic disease;
  • DNA variation;
  • disease classification;
  • central bioinformatics resource for human disease;
  • monogenic disorders;
  • mutation databases

Summary

This chapter includes the following topics:

  • Human Genetic Disease: A Consequence of DNA Variation

  • A Bioinformatics Perspective on Human Disease

  • Garrod's View of Disease

  • Categories of Disease

  • Classification of Disease

  • Monogenic Disorders

  • Complex Disorders

  • Analysis of Chromosomal Abnormalities in Disease

  • Human Disease Genes in Model Organisms

  • Human Disease Organizations

  • Functional Classification of Disease Genes

  • Perspective

  • Pitfalls

  • Web Resources

  • Discussion Questions

  • Problems

  • Self-Test Quiz

  • Suggested Reading

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