Genetic Testing

What is Novaseq, the most advanced

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Summary of this article

NovaSeq is Illumina's state-of-the-art Next Generation Sequencer (NGS), characterized by extremely high throughput (ability to generate large amounts of data). NovaSeq is the most powerful model of Illumina sequencers on the market today and is ideal for projects that require large amounts of data, such as large-scale whole genome sequencing (WGS), transcriptome analysis (RNA-seq), and exome analysis.

NovaSeq is the leading model for next-generation sequencing, offering a wide range of data throughput options and used for analysis of large sample volumes and comprehensive analysis of complex genomes.

1. main features of NovaSeq

ultrahigh throughput

The most important feature of the NovaSeq is its extremely high data throughput: it can generate up to 6 Tb (terabytes) or more of data in a single run, making it possible to analyze hundreds of whole human genomes simultaneously. This is by far the most data that can be generated compared to other Illumina sequencers.

Flexible throughput options

NovaSeq offers a variety of Flow Cell options, allowing you to tailor data throughput to the size of your project. This allows for small to very large sequencing projects. The following four flow cell types are available

  1. S1 Flow Cell: For small to medium size projects. Generates up to 770 Gb of data.
  2. S2 Flow Cell: For mid-size projects. Generates up to 1.6 Tb of data.
  3. S4 Flow Cell: For large scale projects. Generates up to 6 Tb of data.
  4. SP Flow Cell: Minimum throughput option, suitable for cost-effective projects.

High-speed sequencing

NovaSeq is capable of extremely fast data generation. Even with paired-end 150 base pair (150 bp × 2) reads, large amounts of data can be generated within 1-2 days, enabling rapid results for time-consuming whole genome analysis and large RNA sequencing projects. The system can also be used to generate large amounts of data within one to two days.

Illumina’s innovative technologies (SBS technology and X-channel chemistry)

  • Sequencing Bisynthesis (SBS) Technology:
    NovaSeq, like all Illumina sequencers, utilizes SBS technology. This technology detects and determines DNA sequences in real time as fluorescently labeled nucleotides are incorporated one nucleotide at a time. Highly accurate and high-throughput data generation is possible.
  • X-Channel Chemistry:
    NovaSeq uses Illumina’s latest X-channel chemistry, which is even faster and more efficient than traditional 2-channel chemistry. This technology significantly increases sequencing speed and generates vast amounts of data in a very short period of time.

Dual indexing option

NovaSeq supports dual indexing, allowing you to sequence thousands of samples simultaneously in a single run. This allows multiple samples to be processed efficiently, saving significant time and cost.

2. applications of NovaSeq

NovaSeq is widely used for very large sequencing projects and commercial sequencing services requiring high throughput. The main applications are as follows

2.1 Whole genome sequencing (WGS)

The NovaSeq is used as the standard model for human whole genome sequencing and is capable of whole genome analysis of large populations. Suitable for individual genome profiling and disease-related large-scale genomic variation analysis, it can cover the entire genome of multiple individuals in a single run, making it particularly suitable for cancer research and population genomics projects.

2.2 Transcriptome analysis (RNA-seq)

NovaSeq is also ideal for transcriptome analysis in gene expression analysis using RNA sequencing (RNA-seq), as it can acquire large data sets in a short period of time. RNA profiling of tens to hundreds of samples can be performed at once.

2.3 Exome sequencing

Exome sequencing targets the coding regions of genes for comprehensive analysis of disease-associated genetic variation, and NovaSeq can perform exome sequencing of thousands of samples in parallel, making it suitable for large-scale genetic variation projects.

2.4 Multiplex target sequencing

The NovaSeq is also used for targeted sequencing, such as in cancer gene panels and genetic disease analysis panels, to detect a wide range of genetic variants. It is also cost-effective because it efficiently analyzes multiplexed samples.

2.5 Large-scale metagenomic analysis

NovaSeq is also used for metagenomic analysis (environmental DNA analysis) to analyze the diversity of microbial communities in the environment, monitor pathogens, and study evolution.

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3. advantages of NovaSeq

  1. Very high throughput: With the ability to generate up to 6 Tb of data, large projects and thousands of samples can be analyzed quickly.
  2. Rapid data acquisition: NovaSeq is extremely fast and can generate large amounts of sequencing data within one to two days, enabling rapid results for even large, time-consuming analysis projects.
  3. Increased cost efficiency: High throughput and the ability to process large volumes of samples reduces the cost per sample, making it very efficient in large studies.
  4. Wide range of applications: Whole genome analysis, RNA sequencing, exome analysis, targeted sequencing, metagenome analysis, etc.

summary

NovaSeq is Illumina’s most powerful next-generation sequencer, with extremely high data throughput and flexible flow cell options, making it ideal for large-scale genome analysis projects. It is widely used by research institutions and commercial sequencing services that require high throughput analysis for whole genome sequencing, exome analysis, and RNA sequencing, as it can analyze large numbers of samples simultaneously and generate vast amounts of data in a short time.

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 YMD, 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 of maternal plasma DNA. 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.

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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