VSClinicalGolden Helix
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Related Products
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About
At Metabolon, we offer the largest Level 1 library in the metabolomics industry. Our proprietary library has been built and curated over 20 years and contains over 5,400 entries. The vast majority of entries in our library are Level 1 attributing approximately 85% (~4,600 entries); however, some are Level 2 (approximately 15% accounting for around 800 entries) due to a lack of commercial standards available to qualify for Level 1. Metabolon delivers accurate, highly actionable insights for our clients’ scientific or clinical inquiries due to our unmatched library breadth and industry-leading annotation confidence levels. Metabolomics applies to a wide range of research, from soil health to food nutrition and preclinical research to clinical trials. Whether you’re searching for trends in a group or refining an individual’s treatment, metabolomics can help you find answers to important questions.
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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
Pharmaceutical and biotechnology companies looking for a platform to speed up metabolomics workflow and streamline 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
No information available.
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 InformationMetabolon
Founded: 2000
United States
www.metabolon.com
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Company InformationGolden Helix
Founded: 1998
United States
www.goldenhelix.com/products/VarSeq/vsclinical.html
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Alternatives |
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Categories |
Categories |
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Integrations
GenomeBrowse
VarSeq
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