A Primer in Genetics

  • Florian FrommletEmail author
  • Małgorzata Bogdan
  • David Ramsey
Part of the Computational Biology book series (COBO, volume 18)


This chapter mainly serves to introduce the terminology used in genetics and explain the biological context in which the statistical problems discussed in later chapters arise. Section 2.1 starts with a review on the fundamentals of genetics, including the process of cell division. These molecular mechanisms lead directly to the crucial concept of genetic distance. We will discuss a number of genetic maps, which are mathematical models that describe the relationship between genetic distance and physical distance on a chromosome. Section 2.2 is concerned with different types of genetic association studies. Several different experimental populations are introduced, and the basic principles of QTL mapping are explained. QTL mapping generally refers to performing genetic association studies with experimental populations. However, the term association study tends to be used in the context of outbred populations, as discussed in detail in Sect. 2.2.3. The chapter finishes with some other important types of study like admixture mapping and family-based studies.


Quantitative Trait Locus Linkage Disequilibrium Genetic Distance Recombinant Inbred Line Quantitative Trait Locus Mapping 
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Copyright information

© Springer-Verlag London 2016

Authors and Affiliations

  • Florian Frommlet
    • 1
    Email author
  • Małgorzata Bogdan
    • 2
  • David Ramsey
    • 3
  1. 1.Center for Medical Statistics, Informatics, and Intelligent Systems Section for Medical StatisticsMedical University of ViennaViennaAustria
  2. 2.Institute of MathematicsUniversity of WrocławWrocławPoland
  3. 3.Department of Operations ResearchWrocław University of TechnologyWrocławPoland

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