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What is VSClinical?

VSClinical enhances the clinical evaluation of genetic variants by aligning with the guidelines set forth by the ACMG and AMP. Its organized workflow ensures compliance with the standards established by the American College of Medical Genetics (ACMG), which are crucial for identifying and classifying pathogenic variants associated with inherited diseases, cancer risk, and rare diagnoses. The integrated ACMG/AMP guidelines for variant interpretation provide a systematic approach for scoring variants and placing them into one of five classification categories. To effectively implement these guidelines, a comprehensive analysis of annotations, genomic contexts, and existing clinical data for each variant is required. VSClinical simplifies this task by delivering a tailored workflow that assesses each pertinent criterion while offering extensive bioinformatics resources, literary references, and insights from clinical databases to support the scoring and interpretation process. This forward-thinking method aims to improve the productivity of variant scientists as they manage the intricacies of variant analysis and processing. Ultimately, VSClinical emerges as a crucial resource for expediting the understanding and classification of genetic variants within clinical environments, fostering better patient outcomes through informed decision-making. Its role in facilitating efficient variant analysis cannot be overstated, as it significantly contributes to the advancement of personalized medicine.

What is Illumina DRAGEN Secondary Analysis?

The DRAGEN Secondary Analysis system from Illumina provides accurate, comprehensive, and exceptionally efficient processing of next-generation sequencing data. By leveraging a graph reference genome in combination with machine learning methodologies, it achieves outstanding precision. With a highly streamlined workflow, it can fully analyze a 34x whole human genome in roughly 30 minutes when operated on the DRAGEN server v4. Furthermore, it optimizes this process by reducing FASTQ file sizes by as much as five times. This system is proficient in handling diverse types of NGS data, such as whole genomes, exomes, methylomes, and transcriptomes. It has been designed to work seamlessly with the user's chosen platform and can scale to accommodate various needs. DRAGEN analysis is consistently recognized as a frontrunner in accuracy for detecting both germline and somatic variants, supported by its strong performance in industry competitions hosted by precisionFDA. This sophisticated analytical tool enables laboratories of all sizes and specialties to fully leverage their genomic datasets. Additionally, the integration of highly adaptable field-programmable gate array (FPGA) technology allows DRAGEN to implement hardware-accelerated genomic analysis algorithms, significantly improving its efficiency. These advancements firmly establish DRAGEN as an essential asset in the rapidly advancing realm of genomics, enabling researchers to push the boundaries of scientific discovery.

Media

Media

Integrations Supported

Amazon Web Services (AWS)
BaseSpace Sequence Hub
Correlation Engine
Emedgene
GenomeBrowse
Illumina Connected Analytics
VarSeq

Integrations Supported

Amazon Web Services (AWS)
BaseSpace Sequence Hub
Correlation Engine
Emedgene
GenomeBrowse
Illumina Connected Analytics
VarSeq

API Availability

Has API

API Availability

Has API

Pricing Information

Pricing not provided.
Free Trial Offered?
Free Version

Pricing Information

Pricing not provided.
Free Trial Offered?
Free Version

Supported Platforms

SaaS
Android
iPhone
iPad
Windows
Mac
On-Prem
Chromebook
Linux

Supported Platforms

SaaS
Android
iPhone
iPad
Windows
Mac
On-Prem
Chromebook
Linux

Customer Service / Support

Standard Support
24 Hour Support
Web-Based Support

Customer Service / Support

Standard Support
24 Hour Support
Web-Based Support

Training Options

Documentation Hub
Webinars
Online Training
On-Site Training

Training Options

Documentation Hub
Webinars
Online Training
On-Site Training

Company Facts

Organization Name

Golden Helix

Date Founded

1998

Company Location

United States

Company Website

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

Company Facts

Organization Name

Illumina

Company Location

United States

Company Website

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

Categories and Features

Categories and Features

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