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Description

The Illumina DRAGEN Secondary Analysis system offers precise, thorough, and highly efficient processing of next-generation sequencing data. Utilizing a graph reference genome alongside machine learning techniques, it achieves remarkable accuracy. The workflow is exceptionally streamlined, capable of completely analyzing a 34x whole human genome in approximately 30 minutes when using the DRAGEN server v4. Additionally, it enhances this workflow by compressing FASTQ file sizes by up to five times. This system is adept at analyzing a variety of NGS data types, including whole genomes, exomes, methylomes, and transcriptomes. It is designed to be compatible with the user's preferred platform and is scalable to meet varying requirements. DRAGEN analysis consistently ranks as a leader in accuracy for both germline and somatic variant detection, as evidenced by its performance in industry competitions conducted by precisionFDA. This advanced analysis solution empowers laboratories of all sizes and specialties to maximize the potential of their genomic datasets. Moreover, the implementation of highly adaptable field-programmable gate array (FPGA) technology allows DRAGEN to deliver hardware-accelerated genomic analysis algorithms, further enhancing its performance. Such advancements position DRAGEN as a vital tool in the ever-evolving field of genomics.

Description

VSClinical facilitates the clinical analysis of genetic variants in accordance with ACMG and AMP guidelines. Its structured workflow supports adherence to the American College of Medical Genetics (ACMG) standards, which are essential for identifying and categorizing pathogenic variants related to inherited disease risk, cancer susceptibility, and rare disease diagnosis. The combined ACMG/AMP guidelines for variant interpretation establish a framework for scoring variants and categorizing them into one of five classification levels. Implementing these guidelines necessitates a thorough examination of annotations, genomic contexts, and pre-existing clinical insights for each variant. VSClinical streamlines this process by offering a customized workflow that evaluates each relevant criterion and supplies comprehensive bioinformatics, literature references, and clinical knowledgebase evidence to aid in the scoring and interpretation of variants. This innovative approach is designed to enhance the efficiency of variant scientists as they navigate the complexities of variant processing and analysis. Overall, VSClinical stands out as a vital tool for accelerating the understanding and classification of genetic variants in clinical settings.

API Access

Has API Yes 

API Access

Has API No 

Screenshots View All

Screenshots View All

Integrations

Amazon Web Services (AWS) Yes 
BaseSpace Sequence Hub Yes 
Correlation Engine Yes 
Emedgene Yes 
GenomeBrowse No 
Illumina Connected Analytics Yes 
VarSeq No 

Integrations

Amazon Web Services (AWS) No 
BaseSpace Sequence Hub No 
Correlation Engine No 
Emedgene No 
GenomeBrowse Yes 
Illumina Connected Analytics No 
VarSeq Yes 

Pricing Details

No price information available.
Free Trial Yes 
Free Version No 

Pricing Details

No price information available.
Free Trial Yes 
Free Version No 

Deployment

Web-Based Yes 
On-Premises Yes 
iPhone App No 
iPad App No 
Android App No 
Windows No 
Mac No 
Linux No 
Chromebook No 

Deployment

Web-Based Yes 
On-Premises No 
iPhone App No 
iPad App No 
Android App No 
Windows No 
Mac No 
Linux No 
Chromebook No 

Customer Support

Business Hours Yes 
Live Rep (24/7) No 
Online Support Yes 

Customer Support

Business Hours Yes 
Live Rep (24/7) No 
Online Support Yes 

Types of Training

Training Docs Yes 
Webinars Yes 
Live Training (Online) Yes 
In Person Yes 

Types of Training

Training Docs Yes 
Webinars Yes 
Live Training (Online) Yes 
In Person Yes 

Vendor Details

Company Name

Illumina

Country

United States

Website

www.illumina.com/products/by-type/informatics-products/dragen-secondary-analysis.html

Vendor Details

Company Name

Golden Helix

Founded

1998

Country

United States

Website

www.goldenhelix.com/products/VarSeq/vsclinical.html

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