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
Mac
Linux
Cloud
On-Premises
iPhone
iPad
Android
Chromebook
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Platforms Supported
Windows
Mac
Linux
Cloud
On-Premises
iPhone
iPad
Android
Chromebook
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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
24/7 Live Support
Online
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Support
Phone Support
24/7 Live Support
Online
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API
Offers API
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API
Offers API
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Screenshots and Videos |
Screenshots and Videos |
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Pricing
Free
Free Version
Free Trial
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Pricing
No information available.
Free Version
Free Trial
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Reviews/
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Reviews/
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Training
Documentation
Webinars
Live Online
In Person
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Training
Documentation
Webinars
Live Online
In Person
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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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