UNIT 1.3 Strategies for Genotyping

  1. Dana C. Crawford1,
  2. Holli Hutcheson Dilks1,2

Published Online: 1 JAN 2011

DOI: 10.1002/0471142905.hg0103s68

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Crawford, D. C. and Dilks, H. H. 2011. Strategies for Genotyping. Current Protocols in Human Genetics. 68:1.3:1.3.1–1.3.22.

Author Information

  1. 1

    Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee

  2. 2

    Department of Pharmaceutical Sciences, Lipscomb College of Pharmacy, Nashville, Tennessee

Publication History

  1. Published Online: 1 JAN 2011
  2. Published Print: JAN 2011


The identification of genomic loci linked to or associated with human disease has been greatly facilitated by the evolution of genotyping strategies and techniques. The success of these strategies continues to be based upon clear clinical assessment, accurate sample handling, and careful data management, but also increasingly upon experimental design. Technological advances in the field of genotyping have permitted increasingly complex and large population studies to be performed. An understanding of publicly available genetic variation databases, including an awareness of the limitations of these data, and an appreciation of the strategic approaches that should be used to exploit this information will provide tremendous insight for researchers are aiming to utilize this accessible technology. As genome-wide association studies (GWAS) and Next Generation (NextGen) sequencing become the mainstays of genetic analyses, it is important that their technical strengths and limitations, as well as their impact on study design, be understood before use in a linkage or genetic association study. Curr. Protoc. Hum. Genet. 68:1.3.1-1.3.22 © 2011 by John Wiley & Sons, Inc.


  • genotyping;
  • linkage;
  • association;
  • PCR;
  • microarray