Genome Technology Center

Simple and Robust Strategies for the Detection of Germline and Somatic of Mutations and Polymorphisms

Nicolas Neckelmann, Ph.D.
Product Manager, Transgenomic, Inc.

The need for automated and efficient mutation detection methods that do not rely on resequencing becomes more apparent as more and more genomic sequences become available. With these needs in mind, we have developed new strategies and dedicated instruments such as the WAVE System for the detection of mutations at the genomic DNA and cDNA level. This presentation will focus on the combination of two technologies – the Transgenomic WAVE HS System and SURVEYOR Nuclease – for the detection of somatic mutations that cannot be detected by conventional sequencing techniques. SURVEYOR Nuclease is a new mismatch-specific endonuclease that has been shown to detect and cleave heteroduplexed DNA at all types of mismatch sites including base substitutions and small insertions and deletions. Use of the new High Sensitivity Detection module of the WAVE HS System facilitates the detection of SURVEYOR Nuclease cleavage products that may be present at picogram levels. Unknown somatic mutations that may be implicated in cancer can thus be detected.

The detection of germline mutations employing the SURVEYOR Nuclease cleavage method, and the analysis of PCR products and microsatellites using a new capillary electrophoresis platform will also be discussed.

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