2015
DOI: 10.1016/j.molcel.2015.05.004
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High-Throughput Sequencing Technologies

Abstract: Summary The human genome sequence has profoundly altered our understanding of biology, human diversity and disease. The path from the first draft sequence to our nascent era of personal genomes and genomic medicine has been made possible only because of the extraordinary advancements in DNA sequencing technologies over the past ten years. Here, we discuss commonly used high-throughput sequencing platforms, the growing array of sequencing assays developed around them as well as the challenges facing current seq… Show more

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Cited by 1,117 publications
(757 citation statements)
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References 114 publications
(113 reference statements)
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“…15 As these techniques are fundamentally optimized for the quantification of nucleic acids, gene expression profiling has traditionally focused on measuring the abundance and regulation of mRNA at the transcriptional level. However, gene expression is also extensively regulated at the translational level, meaning that mRNA abundance alone does not fully present the expressional status.…”
Section: Introductionmentioning
confidence: 99%
“…15 As these techniques are fundamentally optimized for the quantification of nucleic acids, gene expression profiling has traditionally focused on measuring the abundance and regulation of mRNA at the transcriptional level. However, gene expression is also extensively regulated at the translational level, meaning that mRNA abundance alone does not fully present the expressional status.…”
Section: Introductionmentioning
confidence: 99%
“…Bioinformatics is going through a transition driven by the ongoing developments of high throughput sequencing [1,2]. To cope with the surge of sequencing data, the bioinformatics community is under pressure to produce faster and more efficient algorithms.…”
Section: Introductionmentioning
confidence: 99%
“…Illumina has come up with the latest NextSeq 500 that has only two-channel SBS technology that requires only two images to determine all four base calls. This reduces the image capturing time, number of cycle, cost of sequencing and time required for data processing, while delivering high quality and accuracy [22].…”
Section: Sequencing By Synthesis (Sbs)mentioning
confidence: 99%