Article
Mutation detection, interpretation, and applications in the clinical laboratory setting.
Mutation research - 3 Jun 2005
Strom Charles M
Abstract excerpt
Mutation detection plays an increasingly significant role in clinical diagnostic testing, posing formidable challenges for laboratories. The expanding indications for clinical molecular testing and the nuances of interpreting test results are discussed. Methods for screening mutation detection platforms and monitoring assay reliability are presented, and results of platform comparisons are described. The...
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