UNIT 7.15 Selection of a Platform for Mutation Detection

  1. Victoria A. Joshi1,2,3,
  2. Debora Mancini-DiNardo1,3,
  3. Birgit H. Funke1,2,3

Published Online: 1 JAN 2008

DOI: 10.1002/0471142905.hg0715s56

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Joshi, V. A., Mancini-DiNardo, D. and Funke, B. H. 2008. Selection of a Platform for Mutation Detection. Current Protocols in Human Genetics. 56:7.15:7.15.1–7.15.30.

Author Information

  1. 1

    Harvard Medical School-Partners Healthcare Center for Genetics and Genomics, Cambridge, Massachusetts

  2. 2

    Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts

  3. 3

    All authors contributed equally to this work.

Publication History

  1. Published Online: 1 JAN 2008
  2. Published Print: JAN 2008


New mutation detection technologies must keep pace by becoming more cost-effective while offering improved technical sensitivity and higher throughput capacity. In recent years, the number of mutation detection platforms available to the clinical researcher has grown to a point where it is difficult to keep track of all available options as well as their benefits and pitfalls. This unit provides an entry point for a variety of researchers who wish to analyze samples for known or novel mutations and need to determine which platform is most suited for their particular needs. A practical guide is provided in this unit, including a brief overview, information on assay parameters, design and cost considerations, as well as platform flexibility and scalability of the assay. Although the focus here is on applications involving human disease, many of these platforms can be easily adapted to the study of other organisms. Curr. Protoc. Hum. Genet. 56:7.15.1-7.15.30. © 2008 by John Wiley & Sons, Inc.


  • mutation detection;
  • mutation scanning;
  • genotyping