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CABI Book Chapter

Genetic epidemiology: methods and applications.

Book cover for Genetic epidemiology: methods and applications.

Description

This book aims to explain and illustrate the fundamental principles of genetic epidemiology research in the context of the rapid changes in the field. It includes 11 chapters. Following an overview of the field, it reviews key genetic concepts, provides an update on relevant genomic technology, including genome-wide chips and DNA sequencing, and describes methods for assessing the magnitude of gen...

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Chapter 3 (Page no: 25)

Genetic concepts and genomic technology for genetic epidemiology.

This chapter provides a brief review of basic concepts in human genetics and a summary of recent advances in genomic technology, with an emphasis on their relevance to genetic epidemiology. Concepts and topics related to single genes include: Mendelian inheritance, modes of inheritance, the Online Mendelian Inheritance in Man (OMIMĀ®) resource, a description of the characteristics of complex genetic traits, the Hardy-Weinberg principle, the genetic code, basic gene structure, types of genetic markers including single nucleotide polymorphisms (SNPs) and copy number variants (CNVs), and the concept of identity by descent (IBD). Concepts and topics related to multiple genes include: genetic linkage, recombination, linkage disequilibrium, haplotypes, and tag SNPs. The overview of developing genomic technology describes genome-wide SNP genotyping platforms, Sanger and next-generation (massively parallel) DNA sequencing methods, and exome sequencing. Different study designs for investigating common and rare genetic variants are summarized.

Other chapters from this book

Chapter: 1 (Page no: 1) The evolving field of genetic epidemiology. Author(s): Austin, M. A. Beaty, T. H.
Chapter: 2 (Page no: 10) Assessing genetic influences on diseases and risk factors. Author(s): Austin, M. A.
Chapter: 4 (Page no: 46) Family studies in genetic epidemiology: from linkage to exome sequencing. Author(s): Austin, M. A. Beaty, T. H. Stanford, J. L.
Chapter: 5 (Page no: 68) Genetic association studies. Author(s): Austin, M. A. Psaty, B. M. Schwartz, S. M.
Chapter: 6 (Page no: 97) Population stratification in genetic association studies. Author(s): McKnight, B.
Chapter: 7 (Page no: 115) Gene-environment interactions and epistasis. Author(s): Austin, M. A. Ottman, R.
Chapter: 8 (Page no: 138) Non-Mendelian genetics. Author(s): Schwartz, S. M.
Chapter: 9 (Page no: 154) Software and data resources for genetic epidemiology studies. Author(s): Thornton, T. A.
Chapter: 10 (Page no: 166) Ethical issues in genetic epidemiology. Author(s): Fullerton, S. M. Edwards, K.
Chapter: 11 (Page no: 176) Public health and clinical applications of genetic epidemiology. Author(s): Gwinn, M. Dotson, W. D.

Chapter details

  • Author Affiliation
  • Department of Epidemiology, University of Washington, Seattle, Washington, USA.
  • Year of Publication
  • 2013
  • ISBN
  • 9781780641812
  • Record Number
  • 20133229407