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Mapping Genes for Common Diseases: Statistical Planning, Power, Efficiency and Informatics

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Molecular Genetic Epidemiology — A Laboratory Perspective

Part of the book series: Principles and Practice ((PRINCIPLES))

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Abstract

After a decade or so of progress with the identification of major genes, the emphasis has shifted towards genes for common diseases (complex traits). Real successes have been few so far. There has been a gradual appreciation of the difficulties presented by genes that have a relatively small individual phenotypic effect and which may show complex interactions. Furthermore, there may be different genetic determinants of the disease in different populations together with environmental effects and practical difficulties in obtaining sufficiently large samples of suitable material for analysis. At the same time, analytical methods have been in flux with many new tests and variations on existing methods appearing in the literature. The choice of analytical strategy is determined to a large extent by the nature of the disease and the DNA resources that can be obtained. Some assessment of power to detect a genetic locus can be useful; however, this may be of limited value given the ignorance of the nature of the genetic basis of the disease. Consideration of the efficiency of different approaches is also important and careful statistical planning should be undertaken.

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Authors and Affiliations

  1. Human Genetics Research Division, Duthie Building University of Southampton, Southampton General Hospital, Tremona Road, Southampton, S016 6YD, UK

    Andy Collins

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  1. Andy Collins
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Editors and Affiliations

  1. Human Genetics Research Division Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton, SO 16 6YD, UK

    Ian N. M. Day

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© 2002 Springer-Verlag Berlin Heidelberg

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Collins, A. (2002). Mapping Genes for Common Diseases: Statistical Planning, Power, Efficiency and Informatics. In: Day, I.N.M. (eds) Molecular Genetic Epidemiology — A Laboratory Perspective. Principles and Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56207-5_1

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  • DOI: https://doi.org/10.1007/978-3-642-56207-5_1

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-41387-5

  • Online ISBN: 978-3-642-56207-5

  • eBook Packages: Springer Book Archive

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