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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 BaseSpace Sequence Hub?

Effective data management and optimized bioinformatics solutions are crucial for labs embarking on or scaling their next-generation sequencing (NGS) efforts. At the heart of the BaseSpace Suite, BaseSpace Sequence Hub acts as a fluid extension of your Illumina equipment. By ensuring secure data transfer from the instrument to BaseSpace Sequence Hub, you can easily manage and analyze your data with a handpicked range of analytical applications. Utilizing Amazon Web Services (AWS) for its infrastructure, BaseSpace Sequence Hub emphasizes data security while enabling you to launch sequencing runs and monitor the performance quality of your devices. The platform increases operational efficiency by converting sequencing data into a uniform format and permitting direct cloud streaming. Moreover, it grants access to computational resources without the burden of heavy investments in local infrastructure. This solution enhances productivity within organizations by offering easy entry to numerous genomic analysis applications developed by Illumina or third-party providers, making it indispensable for any laboratory. Consequently, BaseSpace Sequence Hub not only streamlines laboratory workflows but also promotes innovative advancements and expansion within the field of genomic research. Ultimately, it empowers labs to focus on scientific discovery while minimizing the complexities associated with data management.

Media

Media

Integrations Supported

Amazon Web Services (AWS)
GenomeBrowse
Illumina DRAGEN Secondary Analysis
Pluto
Scispot
VarSeq

Integrations Supported

Amazon Web Services (AWS)
GenomeBrowse
Illumina DRAGEN Secondary Analysis
Pluto
Scispot
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/basespace-sequence-hub.html

Categories and Features

Categories and Features

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