These instruments are widely called the next-generation sequencers. With the support from NHGRI and private sectors, massively parallel sequencers based on various technicalities have been released to the market. The gold standards ( NHGRI, 2004) are summarized as: (1) high accuracy (less than 1 error in 10,000 bases), (2) long read length (essentially no gaps), (3) high throughput, and (4) low cost (= $1000/genome). In 2004, the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) launched the “$1000 Genome” project ( Spencer, 2010) to develop revolutionary sequencing technologies that would enable a mammalian-sized genome to be sequenced for $1000 or less. Hence, its importance in understanding of disease mechanism, genetic diagnosis, and personalized medicine ( Hamburg and Collins, 2010) cannot be overestimated. In this review, we address advances, challenges, and possible solutions of nanopore sequencing according to these standards.ĭNA sequencing is the most powerful method to reveal genetic variations at the molecular level, such as single nucleotide polymorphism, copy number variation, gene fusion, and insertion/deletion, etc., which are relevant to genetic diseases including cancer ( Topol, 2014). A newly released protein nanopore sequencer has shown encouraging potential that nanopore sequencing will ultimately fulfill the gold standards.
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Both of protein and solid-state nanopores have been extensively investigated for a series of issues, from detection of ionic current blockage to field-effect-transistor (FET) sensors. Nanopore sequencing, the third-generation, is believed to be one of the most promising sequencing technologies to reach four gold standards set for the “$1000 Genome” while the second-generation sequencing technologies are bringing about a revolution in life sciences, particularly in genome sequencing-based personalized medicine. The “$1000 Genome” project has been drawing increasing attention since its launch a decade ago. Department of Plant Science, School of Agriculture and Biology, Shanghai Jiao Tong University, Shanghai, China.