GenomeStudioIllumina
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VSClinicalGolden Helix
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About
Visualize and analyze data generated on Illumina array platforms with GenomeStudio Software. This powerful solution supports the genotyping analysis of microarray data. Performance-optimized tools and a user-friendly graphical interface enable you to convert data into meaningful results quickly and easily. Analyze SNP and CNV data across 5 million markers and probes. Detect sample outliers. Analyze differentially expressed genes across different genomes. Profile miRNA expression. Combine mRNA and microRNA data in a single project. Detect cytosine methylation at single-base resolution. Identify methylation signatures across the entire genome. At Illumina, our goal is to apply innovative technologies to the analysis of genetic variation and function, making studies possible that were not even imaginable just a few years ago. It is mission critical for us to deliver innovative, flexible, and scalable solutions to meet the needs of our customers.
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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
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Mac
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Linux
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Cloud
Supported
On-Premises
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iPhone
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iPad
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Android
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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
Scientists seeking a solution to convert array data into meaningful results and analyze data generated on Illumina array platforms
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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
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24/7 Live Support
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Online
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Support
Phone Support
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24/7 Live Support
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Online
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API
Offers API
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API
Offers API
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Pricing
No information available.
Free Version
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Free Trial
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Pricing
No information available.
Free Version
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Free Trial
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Reviews/
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Training
Documentation
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Webinars
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Live Online
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In Person
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Training
Documentation
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Webinars
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Live Online
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In Person
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Company InformationIllumina
Founded: 1998
United States
www.illumina.com/techniques/microarrays/array-data-analysis-experimental-design/genomestudio.html
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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
GenomeBrowse
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VarSeq
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