Illumina DRAGEN Bio-IT平台

Illumina DRAGEN(Dynamic Read Analysis for GENomics)Bio-IT平台能够对新一代测序(NGS)数据进行超快速的二级分析。Read More...
Illumina DRAGEN Bio-IT平台可提供
  • 准确的数据:以高分析灵敏度和高特异性检测小变异1
  • 强劲的速度:在约25分钟内以30倍的覆盖度处理整个人类基因组2,3
  • 灵活的解决方案:可在本地或云端进行数据分析
  • 各种不同的应用:可分析全基因组、全外显子组和靶向panel的测序数据
DRAGEN Options
DRAGEN on BaseSpace Sequence Hub
DRAGEN on BaseSpace Sequence Hub
DRAGEN On-Premise
DRAGEN On-Premise
DRAGEN On-Premise
DRAGEN on NextSeq 1000/2000
超快速的分析

DRAGEN平台可以在25分钟之内以30倍的覆盖度在本地处理整个人类基因组的NGS数据,而传统的基于CPU的系统需要的时间超过15小时。其创造了基因组数据分析的两项世界速度记录。2,3

经济高效的解决方案

DRAGEN平台可以减少服务器集群的内部投资和云计算资源的利用。

高度精确的结果

在2018年举行的PrecisionFDA Hidden Treasures热身挑战赛中,DRAGEN平台从识别出所有50个变异的平台中脱颖而出,在全基因组变异检出的六项精确度测量中有五项获得了最高分。1

多样化的应用

DRAGEN平台可分析全基因组、全外显子组、靶向panel、生殖系和体细胞数据集以及RNA测序实验的测序数据。

Frequent Updates

Frequent releases continuously expand and improve the DRAGEN Platform while accommodating new applications and addressing evolving industry standards.

Bringing Bioinformatics In-House Reduces Costs and Turnaround Time

Alexander Bisignano, cofounder and Chief Executive Officer of Phosphorus, discusses how the company uses the DRAGEN Bio-IT Platform to perform genomics data analysis onsite and at an accessible price point.

Read Interview
Phosphorus data analysis

DRAGEN平台使各种规模和学科的实验室能够利用其基因组数据挖掘更多的信息。DRAGEN平台使用高度可重新配置的现场可编程门阵列技术(FPGA),通过加速硬件来实施基因组分析算法,例如BCL转换、定位、比对、分选、重复标记和单倍型变异检出。DRAGEN平台的基本功能解决了基因组分析中的常见难题,例如计算时间长和数据量大。

DRAGEN平台可在不影响精确度的前提下,实现快速、灵活和经济高效。DRAGEN平台的可重编程特性使Illumina能够开发自定义算法,还允许进行改进以便适于未来的应用。

Key DRAGEN Applications

  DRAGEN server DRAGEN BaseSpace NextSeq 1000/2000
Demultiplexing (BCL Convert)      
Map & Align      
RNA-Seq (gene fusion & quantification      
Exome enrichment (germline & somatic)     Germline only
Whole genome (germline & somatic)     Germline only
Methylation      
Joint Genotyping      
TSO 500 Liquid      

DRAGEN is also available via an Amazon Machine Image (AMI) on AWS MarketPlace

Pipeline Description Variant Types Detected Metrics Provided
DRAGEN Demultiplexing Rapid demultiplexing of NGS analysis N/A N/A
DRAGEN Map + Align The DRAGEN Map + Align can be run as a standalone or as part of DRAGEN’s suite of pipelines N/A
  • Mapping metrics
  • Duration Metrics
  • Coverage Metrics
DRAGEN Germline The DRAGEN Germline Pipeline provides end-to-end NGS analysis, including advanced error model calibration for increased accuracy, and repeat expansion detection and genotyping through Illumina Expansion Hunter.
  • SNV
  • CNV
  • SV
  • Repeat Expansions
  • Mapping metrics
  • Duration Metrics
  • Coverage Metrics
  • Variant Metrics
  • Callability Report
DRAGEN Somatic The DRAGEN Somatic Pipeline includes tumor-only and tumor–normal modes, designed for detecting somatic variants in tumor samples. Both modes make no ploidy assumptions, enabling detection of low-frequency alleles.
  • SNV
  • CNV
  • SV
  • Mapping metrics
  • Duration Metrics
  • Coverage Metrics
  • Variant Metrics
  • Callability Report
DRAGEN Enrichment The DRAGEN Enrichment Pipeline combines DRAGEN’s germline and somatic callers into a pipeline designed specifically for analyzing enrichment samples. Includes a full suite of enrichment metrics and reporting.
  • SNV
  • CNV
  • SV
  • Mapping metrics
  • Duration Metrics
  • Coverage Metrics
  • Variant Metrics
  • Callability Report
DRAGEN RNA The DRAGEN RNA Pipeline performs transcriptome analysis starting with splice junction discovery and alignment, followed by rapid alignment and splice junction mapping and quantification. For differential expression, Illumina recommends using the DeSeq 2 app on BaseSpace Sequence Hub.
  • DNA fusion
  • Mapping metrics
  • Duration Metrics
  • Coverage Metrics
  • Variant Metrics
  • Callability Report
DRAGEN Joint Genotyping The DRAGEN Joint Genotyping/Population Pipeline calls variants jointly across multiple genomes and scales to large cohorts of samples at expedited speeds with uncompromising accuracy.
  • SNV
  • CNV
  • SV
  • Repeat Expansions
  • Mapping metrics
  • Duration Metrics
  • Coverage Metrics
  • Variant Metrics
  • Callability Report
DRAGEN Methylation The DRAGEN Methylation Pipeline performs alignment, methyl calling, and calculates alignment and methylation metrics. N/A
  • Mapping metrics
  • Duration Metrics
  • Coverage Metrics
  • Variant Metrics
  • Callability Report
DRAGEN Reference Builder Accepts FASTA files, and builds the proprietary reference used by the DRAGEN apps. N/A N/A
DRAGEN TruSight Oncology 500 ctDNA Analysis Software Secondary analysis support for Illumina’s TruSight Oncology 500 ctDNA. Only available on the local DRAGEN Server (version 3)
  • SNV
  • CNV
  • DNA fusions
  • MSI
  • TMB
  • Mapping metrics
  • Duration Metrics
  • Coverage Metrics
  • Variant Metrics
  • Callability Report

DRAGEN on BaseSpace Sequence Hub couples speed and accuracy of the DRAGEN Platform with the security, cost savings, and intuitive interface of BaseSpace Sequence Hub.

  • Push-button analysis for varying levels of expertise
  • Stream data directly from instruments for rapid analysis
  • Low costs with no hardware investments
  • Leverages the security, compliance, and storage features of BaseSpace Sequence Hub and Amazon Web Services (AWS)

Read Data Sheet

Learn More About BaseSpace Apps

DRAGEN on BaseSpace Sequence Hub
 

DRAGEN on-premise conducts secondary analysis in a fraction of the time compared with a traditional CPU-based system, while still maintaining high accuracy.

  • Analyze and store data locally
  • Supports varying levels of command line interface
  • Replace up to 30 traditional compute instances
  • Process NGS data for an entire human genome at 30x coverage in < 25 minutes
  • One unit supports two NovaSeq systems running at full capacity

Read Data Sheet

DRAGEN On-Premise
View Video
Broad研究所

Broad研究所的Anthony Philippakis和Illumina的Susan Tousi是合作伙伴,他们就GATK与Illumina测序仪的整合以及DRAGEN平台的实施如何促进硬件加速和数据分析标准化进行了讨论。

观看视频

GeneDx Scales from Exomes to Genomes using DRAGEN

Leveraging DRAGEN, GeneDx is now able to grow its operations while keeping costs low, turnaround times short, and accuracy high.

Read Article            
Rady儿童医院

该医院创造了最快基因诊断(19.5小时)的吉尼斯世界纪录。DRAGEN平台显著提高了测序后进行基因组数据定位和比对的速度。1

阅读文章            
PrecisionFDA

在2018年举行的PrecisionFDA Hidden Treasures热身挑战赛中,DRAGEN平台从识别出所有50个变异的平台中脱颖而出,在全基因组变异检出的六项精确度测量中有五项获得了最高分。2

阅读文章            
群体测序

快速分析测序基因组;随着计算工具的不断改进,加速重分析。

NICU和遗传病

在快速获得结果至关重要时,减少基因组分析所需的时间。

测序中心

利用硬件加速算法保持领先的持续分析需求。

农业基因组学

利用所提供的参考资料分析具有不同基因组复杂性的动植物。

临床和转化研究

以快速的周转时间和高精确度分析靶向外显子组数据,确保重现性和高质量的结果。

参考文献
  1. Precision FDA Hidden Treasures Warm Up. precision.fda.gov/challenges/1/view/results. Accessed September 14, 2018.
  2. Bio IT World. Children’s Hospital Of Philadelphia, Edico Set World Record For Secondary Analysis Speed. October 23, 2017. www.bio-itworld.com/2017/10/23/childrens-hospital-of-philadelphia-edico-set-world-record-for-secondary-analysis-speed.aspx. Accessed September 19, 2018.
  3. The San Diego Union Tribune. Rady Children's Institute sets Guinness world record. February 12, 2018. www.sandiegouniontribune.com/news/health/sd-no-rady-record-20180209-story.html. Accessed September 19, 2018.

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