UNIT 7.15 Selection of a Platform for Mutation Detection
Published Online: 1 JAN 2008
Copyright © 2001 John Wiley & Sons, Inc. All rights reserved.
Lab Protocol Title
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.
- Published Online: 1 JAN 2008
- 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;