Genetic Testing

What is NextSeq?

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Summary of this article

NextSeq is one of Illumina's Next Generation Sequencers (NGS), a model that enables high-throughput data acquisition NextSeq is suitable for medium to large sequencing projects. It is characterized by its ability to generate more data in less time. It is mainly used for large-scale analyses such as whole genome sequencing (WGS), transcriptome analysis (RNA-seq), and exome sequencing.

1. features of NextSeq

high throughput

NextSeq offers high-throughput data generation, capable of generating up to 120 Gb of data in a single run. This makes it ideal for projects that require large amounts of data, such as whole genome analysis and large-scale RNA sequencing.

Flexible throughput options

NextSeq offers two cartridge options. This allows you to choose either High Output or Mid Output mode, depending on the size of your project, and adjust the amount of data generated and run time.

  • High Output mode: produces up to 120 Gb of data and up to 800M reads with 100 base pair (bp) paired-end reads.
  • Mid Output mode: produces up to 39 Gb of data and up to 260M reads with 100 base pair paired paired-end reads.

Fast analysis

NextSeq is extremely fast sequencing compared to traditional Illumina sequencers; a single run provides analysis results within one to two days, making it ideal for time-sensitive projects.

Extensible lead length

NextSeq offers flexible read lengths, up to 150 base pairs (bp). This allows for either short or long reads to be used for analysis.

2. the NextSeq technology

Sequencing Bisynthesis (SBS) technology

NextSeq, like all Illumina sequencers, employs Sequencing by Synthesis (SBS ) technology, a technique in which fluorescently labeled nucleotides are incorporated into DNA one nucleotide at a time and the process is detected and sequenced in real time. The SBS technology is a method of sequencing DNA by detecting the incorporation of fluorescently labeled nucleotides one base at a time in real time. This allows for highly accurate and high-throughput sequencing.

2-Channel Chemistry

NextSeq uses Illumina’s 2-channel chemistry to read bases faster than traditional 4-channel methods. 2-channel chemistry uses two fluorescent signals to identify four different bases, which speeds up the sequencing cycle.

pair-end sequence

NextSeq supports paired-end sequencing (bidirectional sequencing), which improves the accuracy of genomic analysis by sequencing both ends of a DNA fragment. This enables the detection of complex mutations such as structural mutations, insertions, and deletions.

Integrated Flow Cell

NextSeq uses an integrated flow cell and hundreds of millions of clusters are sequenced in parallel. This allows a huge number of DNA fragments to be sequenced simultaneously.

親子鑑定　NIPPT　DNA鑑定　医療行為

3. Applications of NextSeq

NextSeq is ideal for medium to large sequencing projects. It is especially widely used for studies that require rapid acquisition of large amounts of data. Below are the main applications of NextSeq.

3.1 Whole genome sequencing (WGS)

NextSeq is used for whole genome sequencing of the human genome and other organisms; it can analyze the entire human genome in a single run and is widely used in cancer research, genetic disease analysis, and evolutionary research.

3.2 Exome sequencing

NextSeq is also suitable for exome sequencing (sequencing only the coding region of a gene), which allows rapid acquisition of data related to specific diseases or genetic mutations. For human exome analysis, hundreds of samples can be processed in parallel.

3.3 Transcriptome analysis (RNA-seq)

Gene expression analysis byRNA sequencing (RNA-seq) is also widely performed with NextSeq. This enables comprehensive examination of genes expressed in tissues and cells, and analysis of expression variations related to diseases and environmental responses.

3.4 Multiplex Target Sequencing

NextSeq is also used for high-throughput targeted sequencing to comprehensively detect genetic mutations in cancer research and genetic disease studies. It is very efficient when analyzing specific gene panels or when sequencing a large number of samples at once.

3.5 Microbial Genome Analysis

NextSeq is also used for whole genome and metagenomic analysis of microorganisms and is suitable for profiling diverse microbial communities in the environment and identifying infectious disease pathogens.

4. Advantages of NextSeq

  1. Throughput flexibility: NextSeq offers the flexibility to handle small-scale targeted analysis to large-scale whole-genome sequencing with the choice of High Output or Mid Output settings depending on the size of the project.
  2. Large amount of data in a short period of time: The fast sequencing process allows a large amount of sequence data to be acquired in a short period of time, making it suitable for projects with time constraints.
  3. User-friendly interface: NextSeq, like all Illumina sequencers, has intuitive software designed to be easy to use, even for novice users.
  4. Highly accurate data: Illumina’s SBS technology and 2-channel chemistry provide highly accurate and reliable data. This is especially useful for detecting complex genomic variations.

summary

NextSeq is a next-generation sequencer for medium to large sequencing projects and is widely used for whole genome analysis, RNA sequencing, and exome sequencing. It is widely used for whole genome analysis, RNA sequencing, and exome sequencing. High throughput and rapid data acquisition make it particularly suitable for research and clinical applications requiring large amounts of data.

医師監修 監修日：2024年10月19日

岡 博史 （おか ひろし）

医師・医学博士 ／ ヒロクリニック統括院長

YouTubeチャンネルなどを通じて、遺伝子やNIPT（新型出生前診断）についてわかりやすく発信しています。

略歴

  • 1996年 慶應義塾大学医学部 卒業
  • 2004年 慶應義塾大学 医学博士号 取得
  • 2005年 慶應義塾大学 皮膚科学教室 助手
  • 2008年 ヒロ皮フ形成クリニック 開業
  • 2009年 医療法人社団福美会 理事長
  • 2015年 医療法人社団福美会 理事

資格・所属

  • CAPラボディレクター
  • 日本皮膚科学会 皮膚科専門医
  • 日本医師会 産業医
  • 東京衛生検査所 指導監督医

発信・関連リンク

この記事は、 ヒロクリニックNIPPTの編集・監修体制 にもとづき、資格を持つ医師が内容を確認しています。

医師監修 監修日：2024年10月19日

堤 修一 （つつみ しゅういち）

医師・医学博士 ／ ヒロクリニック博多駅前院 院長

略歴

  • 1993年 東京大学医学部医学科 卒業
  • 2016〜2019年 東京大学先端科学技術研究センター 准教授

発信・関連リンク

この記事は、 ヒロクリニックNIPPTの編集・監修体制 にもとづき、資格を持つ医師が内容を確認しています。

参考文献

  1. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997 Aug 16;350(9076):485-7.
  2. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16266-71.
  3. Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63.
  4. Sehnert AJ, Rhees B, Copple E, vandergriend R, Christian A, Rava RP, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem. 2011 Jul;57(7):1042-9.
  5. Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014 Feb 27;370(9):799-808.

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Supervisor of the article

Dr. Hiroshi Oka

Director of CAP Laboratory

Graduated from Keio University, Faculty of Medicine

Doctor of Medicine

Medical Doctor