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Synopsis
"It will be the basic aim of this book," writes Peter J. Bridge, "to impart to the reader the fundamentals of how we start with laboratory results and end up with numbers representing genetic risks." This practical guide for both clinical and research geneticists explains how to calculate an individual's genetic risk based on information available from genetic testing and from family pedigrees. Bridge begins with the general theory of estimating genetic risks, then progresses through familial and isolated cases, both simple and complex. A major strength of the book lies in the wealth of worked examples provided throughout the text. The disorders are selected to be widely applicable or adaptable as needed.
New to this edition are sections on consanguinity, multipoint linkage analysis, nonparametric methods, homozygosity mapping, and physical mapping. Also new is a chapter on other DNA-based calculations, including sections on paternity, zygosity, family reconstructions, and quantification of mitochondrial mutations.
From reviews of the first edition: "To use a computer package intelligently and safely, you need to have in reserve the ability to do the calculation by hand, at least approximately, so as to appreciate which factors contribute to the risk. And the current computer packages cannot cope with several factors which can crucially affect the final risk, such as germinal mosaicism or the risk of maternal cell contamination... Bridge's book is very thorough. Every combination of pedigree structure and marker data is discussed, with numerous tables showing the result of systematically varying one or more parameters." -- Journal of Medical Genetics
"A useful reference book." -- American Journal of Human Genetics
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Book Description
The fundamentals of how scientists start with laboratory results and end up with numbers representing genetic risks.
About the Author
Peter J. Bridge is director of the Molecular Diagnostic Laboratory at Alberta Children's Hospital in Calgary, Alberta, Canada.
"About this title" may belong to another edition of this title.
- PublisherThe Johns Hopkins University Press
- Publication date1997
- ISBN 10 0801857449
- ISBN 13 9780801857447
- BindingHardcover
- LanguageEnglish
- Edition number2
- Number of pages248
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The Calculation of Genetic Risks: Worked Examples in DNA Diagnostics
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ISBN 13: 9780801857447
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The Calculation of Genetic Risks: Worked Examples in DNA Diagnostics
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The Calculation of Genetic Risks: Worked Examples in DNA Diagnostics
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ISBN 10: 0801857449
ISBN 13: 9780801857447
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