By PCR-SSCP analysis, 17 PCR products were identified with different mobility of singlestrandDNA in propositus. 9 suspectable mutations were revealed with DNA sequencing analysis.
With nanopores, however, virtually no chemical pre-processing is required and no amplification. Instead a singlestrand of DNA can be read, one base pair at a time, and without the need for labelling.
Even so, the ultimate goal is to perfect single-strandDNA sequencing, threading large sequences of DNA through nanopores and reading them as they pass through.