TruSight Software Suite

Bringing efficiency and high confidence to case management, variant analysis, and interpretation in rare disease.Read More...
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TruSight Software Suite 48 samples

20041943

TruSight Software Suite 96 samples

20041944

TruSight Software Suite 288 samples

20041945

TruSight Software Suite 480 samples

20041946

TruSight Software Suite 960 samples

20041947

TruSight Software Suite 2,400 samples

20041948

TruSight Software Suite 4,800 samples

20041949

TruSight Software Suite 9,600 samples

20042010

Services

TruSight Software Suite Training at Customer site- 1 day

20042020

TruSight Software Suite Training at Illumina Solutions Center 1 day

20042021

Product Highlights

TruSight Software Suite is designed for translating sequencing data into meaningful, interpretable results in rare disease cases. This software as a service (SaaS) analytics solution integrates with the NovaSeq 6000 System.

Comprehensive, Ultra-rapid Variant Calling

TruSight Software Suite is integrated with the DRAGEN Bio-IT Platform, enabling comprehensive, streamlined variant analysis. Use DRAGEN secondary analysis to call small variants, structural variants, mitochondrial variants, repeat expansions, runs of homozygosity, and SMN1/SMN2 variants.

Simplified, Customizable Case Management

Manage cases from sample acquisition to report, assign cases to users, configure pipeline settings, and set quality control thresholds.

Intuitive, High-powered Interpretation

Use TruSight Software Suite to filter variants via gene lists, inheritance modes, custom annotations, and complex logic. You can also flag, sort, and report variants using custom templates.

Secure, Compliant Environment

TruSight Software Suite has been independently audited and certified for HIPAA compliance, ISO 27001, and ISO 13485. It is built to enable data privacy and compliance with the principles of the GDPR.

HIPAA COMPLIANT CERTIFIED by schellman
ISO 27001 CERTIFIED by schellman
ISO 13485 CERTIFIED by BSI
GDPR Ready
Rare Variant Analysis Made Easy

Comprehensive variant calling and interpretation with TruSight Software Suite can help you find critical answers quickly.

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Driving Standards and Best Practices in Clinical Sequencing

The Medical Genome Initiative consortium aims to expand access to high-quality clinical whole-genome sequencing for rare genetic diseases.

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TruSight Software Suite

Learn how TruSight Software Suite offers an intuitive and comprehensive rare disease analysis and interpretation solution.

Read Data Sheet

Frequently Purchased Together

Case Studies

为罕见疾病变异的分析和解释提供信息

TruSight Software Suite的案例

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Supporting Data and Figures

 

产品资料

TruSight Software Suite

Data Sheet | PDF1 MB

手册和支持信息

自定义协议选择器
Generates customized, end-to-end instructions

全部 TruSight Software Suite Support 

Related Products

Illumina DNA PCR-Free Prep

高性能、快速、集成的工作流程,适用于人类全基因组测序等灵敏应用。


NovaSeq Reagent Kit

适用于NovaSeq 6000系统的试剂套件提供了随时可用的试剂盒,可用来进行簇生成与边合成边测序。


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。


References
  1. Clark MM, Stark Z, Farnaes L, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected diseases. NPJ Genom Med. 2018;3:16.
  2. Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF, et al. Predicting splicing from primary sequence with deep learning. Cell. 2019;176(3):535–548.
  3. Sundaram L, Gao H, Padigepati SR, et al. Predicting the clinical impact of human mutation with deep neural networks. Nat Genet. 2018;50(8):1161– 1170.