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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 Bioconductor?

The Bioconductor initiative is committed to the development and distribution of open-source software aimed at facilitating precise and reproducible analysis of biological datasets. We foster an inclusive and collaborative atmosphere for both developers and data scientists. The platform is rich in resources intended to elevate the functionality of Bioconductor. Regardless of whether you require basic tools or advanced features, our comprehensive tutorials, guides, and documentation provide essential support. Leveraging the R programming language, Bioconductor adheres to an open-source and open development framework. With its biannual releases and an active user community, it serves as a crucial asset in the domain. Moreover, Bioconductor provides Docker images with each release and offers guidance on their deployment within AnVIL. Founded in 2001, Bioconductor has become a pivotal open-source software tool widely employed in bioinformatics and biomedical research. It boasts an impressive collection of over 2,000 R packages developed by more than 1,000 contributors, resulting in over 40 million downloads each year. Additionally, Bioconductor's influence is evident, having been cited in over 60,000 scientific publications, underscoring its profound impact on research and analysis within the biological sciences. This unwavering dedication to open-source collaboration not only supports current research but also propels future innovations in the field, making it an indispensable resource for ongoing scientific exploration.

Media

Media

Integrations Supported

Docker
GenomeBrowse
R
VarSeq

Integrations Supported

Docker
GenomeBrowse
R
VarSeq

API Availability

Has API

API Availability

Has API

Pricing Information

Pricing not provided.
Free Trial Offered?
Free Version

Pricing Information

Free
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

Bioconductor

Date Founded

2001

Company Location

United States

Company Website

www.bioconductor.org

Categories and Features

Categories and Features

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