VSClinicalGolden Helix
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Related Products
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About
The Bioconductor project aims to develop and share open source software for precise and repeatable analysis of biological data. We foster an inclusive and collaborative community of developers and data scientists. Resources to maximize the potential of Bioconductor. From basic functionalities to advanced features, our tutorials, guides, and documentation have you covered. Bioconductor uses the R statistical programming language and is open source and open development. It has two releases each year and an active user community. Bioconductor provides Docker images for every release and provides support for Bioconductor use in AnVIL. Founded in 2001, Bioconductor is an open-source software project widely used in bioinformatics and biomedical research. It hosts over 2,000 R packages contributed by over 1,000 developers, with over 40 million downloads per year. Bioconductor has been cited in more than 60,000 scientific publications.
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About
VSClinical allows for the clinical interpretation of variants based on ACMG & AMP guidelines. The VSClinical guided workflow enables following the American College of Medical Genetics (ACMG) guidelines used to identify and classify causal variants for inherited disease risk, cancer predisposition, and the diagnosis of rare diseases. The ACMG/AMP joint guidelines for variant interpretation provide a set of criteria to score variants and place them into one of five classification tiers. Following the guidelines requires deep diving into the annotations, genomic context, and existing clinical assertions about every variant. VSClinical provides a tailored workflow to score each relevant criterion while also providing all the bioinformatic, literature and evidence from clinical knowledgebases to assist in the scoring and interpretation process. VSClinical is designed to allow variant scientists to efficiently process variants.
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Platforms Supported
Windows
Supported
Mac
Supported
Linux
Supported
Cloud
Not Supported
On-Premises
Not Supported
iPhone
Not Supported
iPad
Not Supported
Android
Not Supported
Chromebook
Not Supported
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Platforms Supported
Windows
Not Supported
Mac
Not Supported
Linux
Not Supported
Cloud
Supported
On-Premises
Not Supported
iPhone
Not Supported
iPad
Not Supported
Android
Not Supported
Chromebook
Not Supported
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Audience
Labs looking for a solution to improve their bioinformatics and biomedical research
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Audience
Geneticists wanting a tool to identify and classify causal variants for inherited disease risk
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Support
Phone Support
Not Supported
24/7 Live Support
Not Supported
Online
Supported
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Support
Phone Support
Supported
24/7 Live Support
Not Supported
Online
Supported
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API
Offers API
Not Supported
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API
Offers API
Not Supported
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Screenshots and Videos |
Screenshots and Videos |
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Pricing
Free
Free Version
Supported
Free Trial
Not Supported
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Pricing
No information available.
Free Version
Not Supported
Free Trial
Supported
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Reviews/
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Reviews/
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Training
Documentation
Supported
Webinars
Not Supported
Live Online
Not Supported
In Person
Not Supported
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Training
Documentation
Supported
Webinars
Supported
Live Online
Supported
In Person
Supported
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Company InformationBioconductor
Founded: 2001
United States
www.bioconductor.org
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Company InformationGolden Helix
Founded: 1998
United States
www.goldenhelix.com/products/VarSeq/vsclinical.html
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Categories |
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Integrations
Docker
Supported
GenomeBrowse
Not Supported
R
Supported
VarSeq
Not Supported
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Integrations
Docker
Not Supported
GenomeBrowse
Supported
R
Not Supported
VarSeq
Supported
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