Selection of a Platform for Mutation Detection

Victoria A. Joshi1, Debora Mancini‐DiNardo2, Birgit H. Funke1

1 Department of Pathology, Massachusetts General Hospital, 2 Harvard Medical School‐Partners Healthcare Center for Genetics and Genomics
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 7.15
DOI:  10.1002/0471142905.hg0715s56
Online Posting Date:  January, 2008
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Abstract

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.

Keywords: mutation detection; mutation scanning; genotyping

     
 
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Table of Contents

  • Introduction
  • Methods for Direct Mutation Detection
  • Methods for Mutation Scanning
  • Detection of Constitutional Copy Number Variation
  • Methylation Detection
  • Acknowledgements
  • Literature Cited
  • Figures
  • Tables
     
 
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Materials

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Literature Cited

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