| Summary: | The aim of the project was the development of a technique by which a subgenomic set of target sequences could be captured in order to be analysed by next-generation sequencing technology.
The technique involved two rounds of filter hybridization enrichment by which genomic DNA fragments of interest were captured, followed by MAPH (Multiplex Amplifiable Probe Hybridization) for evaluation of the enrichment. Enriched genomic DNA was cloned and sequenced, for the level of enrichment to be estimated.
After two rounds of enrichment for human MSH2 exons, approximately 90% of the total cloned sequences were found to contain sequences of interest, equal to an enrichment of 600,000 times.
The new technique was therefore shown to be efficient with high specificity and could be used as a potential clinical diagnostic tool.
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