ThoaThoa.io
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VSClinicalGolden Helix
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Related Products
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About
Thoa is a cloud bioinformatics platform that solves the six most expensive problems researchers face daily: environment and dependency conflicts, pipeline management, reproducibility, scaling compute, collaboration, and data sharing.
Run Nextflow and Snakemake workflows on managed cloud infrastructure (up to 12TB RAM) with zero DevOps setup. Thoa's AI-assisted debugger resolves environment issues in real time, so pipelines don't crash hours into execution. Every run automatically captures its full execution context: data, software versions, environment, and machine config.
Share complete analyses with collaborators in one click. Recipients can view and re-run results without creating an account or mirroring infrastructure. Supports Docker, Conda, Singularity, Python, and R.
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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
Bioinformaticians, computational biologists, genomics researchers, core facility managers, lab directors, biotech R&D teams, pharma research groups, CROs, academic research labs, bioinformatics MSc programs
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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 VideosNo images available
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Pricing
$35/user/month
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 InformationThoa.io
Founded: 2026
Switzerland
www.thoa.io
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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
VarSeq
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