OmicsBoxBioBam Bioinformatics S.L.
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VSClinicalGolden Helix
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Related Products
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About
OmicsBox is a leading bioinformatics solution that offers end-to-end data analysis of genomes, transcriptomes, metagenomes, and genetic variation studies. The application is used by top private and public research institutions worldwide and allows researchers to easily process large and complex data sets, and streamline their analysis process. It is designed to be user-friendly, efficient, and with a powerful set of tools to extract biological insights from omics data.
The software is structured in different modules, each with a specific set of tools and functions designed to perform different types of analysis, such as de-novo genome assemblies, genetic variation analysis, differential expression analysis, and taxonomic classifications of microbiome data, including the functional interpretation and rich visualizations of results. The functional analysis module includes the popular Blast2GO annotation methodology and makes OmicsBox particularly suited for non-model organism research
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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
Researcher Scientists from Private and Public Research Institutions
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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
€100/month/seat
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 InformationBioBam Bioinformatics S.L.
Founded: 2011
Spain
www.biobam.com
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Company InformationGolden Helix
Founded: 1998
United States
www.goldenhelix.com/products/VarSeq/vsclinical.html
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Categories |
Categories |
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Integrations
GenomeBrowse
VarSeq
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