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Open AccessJournal ArticleDOI

The Potential and Challenges of Nanopore Sequencing

TLDR
A nanopore-based device provides single-molecule detection and analytical capabilities that are achieved by electrophoretically driving molecules in solution through a nano-scale pore, a unique analytical capability that makes inexpensive, rapid DNA sequencing a possibility.
Abstract
A nanopore-based device provides single-molecule detection and analytical capabilities that are achieved by electrophoretically driving molecules in solution through a nano-scale pore. The nanopore provides a highly confined space within which single nucleic acid polymers can be analyzed at high throughput by one of a variety of means, and the perfect processivity that can be enforced in a narrow pore ensures that the native order of the nucleobases in a polynucleotide is reflected in the sequence of signals that is detected. Kilobase length polymers (single-stranded genomic DNA or RNA) or small molecules (e.g., nucleosides) can be identified and characterized without amplification or labeling, a unique analytical capability that makes inexpensive, rapid DNA sequencing a possibility. Further research and development to overcome current challenges to nanopore identification of each successive nucleotide in a DNA strand offers the prospect of 'third generation' instruments that will sequence a diploid mammalian genome for ∼$1,000 in ∼24 h.

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Journal ArticleDOI

Sequencing technologies-the next generation

TL;DR: A technical review of template preparation, sequencing and imaging, genome alignment and assembly approaches, and recent advances in current and near-term commercially available NGS instruments is presented.
Posted Content

Haplotype-based variant detection from short-read sequencing

Erik Garrison, +1 more
- 17 Jul 2012 - 
TL;DR: A Bayesian statistical framework which is capable of modeling multiallelic loci in sets of individuals with non-uniform copy number is developed and its implementation in a haplotype-based variant detector, FreeBayes is described.
Journal ArticleDOI

Science and technology roadmap for graphene, related two-dimensional crystals, and hybrid systems

Andrea C. Ferrari, +68 more
- 04 Mar 2015 - 
TL;DR: An overview of the key aspects of graphene and related materials, ranging from fundamental research challenges to a variety of applications in a large number of sectors, highlighting the steps necessary to take GRMs from a state of raw potential to a point where they might revolutionize multiple industries are provided.
Journal ArticleDOI

ChIP-Seq: advantages and challenges of a maturing technology

TL;DR: The benefits and challenges in harnessing ChIP–seq are described with an emphasis on issues related to experimental design and data analysis, and effective computational analysis will be crucial for uncovering biological mechanisms.
Journal ArticleDOI

Continuous base identification for single-molecule nanopore DNA sequencing

TL;DR: It is shown that a protein nanopore with a covalently attached adapter molecule can continuously identify unlabelled nucleoside 5'-monophosphate molecules with accuracies averaging 99.8%.
References
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Book

A Laboratory manual

M. Ashburner
TL;DR: To develop a program to print the barcodes using two commonly uses command sets and hence evaluates their ease of use for such applications, students should be able to program dot matrix printers, by manipulating bit level information and ink jet printers using page description language, such as PCL.
Journal ArticleDOI

Next-generation DNA sequencing.

TL;DR: Next-generation DNA sequencing has the potential to dramatically accelerate biological and biomedical research, by enabling the comprehensive analysis of genomes, transcriptomes and interactomes to become inexpensive, routine and widespread, rather than requiring significant production-scale efforts.
Journal ArticleDOI

Characterization of individual polynucleotide molecules using a membrane channel

TL;DR: It is shown that an electric field can drive single-stranded RNA and DNA molecules through a 2.6-nm diameter ion channel in a lipid bilayer membrane, which could in principle provide direct, high-speed detection of the sequence of bases in single molecules of DNA or RNA.
Journal ArticleDOI

The impact of next-generation sequencing technology on genetics.

TL;DR: Next-generation sequencing technologies are surveyed and it is considered how they can provide a more complete picture of how the genome shapes the organism.
Journal ArticleDOI

Ion-beam sculpting at nanometre length scales

TL;DR: It is shown that ion-beam sculpting can be used to fashion an analogous solid-state device: a robust electronic detector consisting of a single nanopore in a Si3N4 membrane, capable of registering single DNA molecules in aqueous solution.
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