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 family pedigrees. The book begins with the general theory of estimating genetic risks, then progresses through familial and isolated cases, both simple and complex. Worked examples are provided throughout the text. The disorders are selected to be as widely applicable or adaptable as needed. New to this edition are sections on consanguinity, multipoint linkage analysis, non-parametric methods, homozygosity mapping and physical mapping. There is also a new chapter on other DNA-based calculations, including sections on paternity, zygosity, family reconstructions and quantification aof mitochondrial mutations.
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Peter J. Bridge is director of the Molecular Diagnostic Laboratory at Alberta Children's Hospital in Calgary, Alberta, Canada.
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