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Description
Galaxy serves as an open-source, web-based platform specifically designed for handling data-intensive research in the biomedical field. For newcomers to Galaxy, it is advisable to begin with the introductory materials or explore the available help resources. You can also opt to set up your own instance of Galaxy by following the detailed tutorial and selecting from a vast array of tools available in the tool shed. The current Galaxy instance operates on infrastructure generously supplied by the Texas Advanced Computing Center. Furthermore, additional resources are mainly accessible through the Jetstream2 cloud, facilitated by ACCESS and supported by the National Science Foundation. Users can quantify, visualize, and summarize mismatches present in deep sequencing datasets, as well as construct maximum-likelihood phylogenetic trees. This platform also supports phylogenomic and evolutionary tree construction using multiple sequences, the merging of matching reads into clusters with the TN-93 method, and the removal of sequences from a reference that are within a specified distance of a cluster. Lastly, researchers can perform maximum-likelihood estimations to ascertain gene essentiality scores, making Galaxy a powerful tool for various applications in genomic research.
Description
VSClinical facilitates the clinical analysis of genetic variants in accordance with ACMG and AMP guidelines. Its structured workflow supports adherence to the American College of Medical Genetics (ACMG) standards, which are essential for identifying and categorizing pathogenic variants related to inherited disease risk, cancer susceptibility, and rare disease diagnosis. The combined ACMG/AMP guidelines for variant interpretation establish a framework for scoring variants and categorizing them into one of five classification levels. Implementing these guidelines necessitates a thorough examination of annotations, genomic contexts, and pre-existing clinical insights for each variant. VSClinical streamlines this process by offering a customized workflow that evaluates each relevant criterion and supplies comprehensive bioinformatics, literature references, and clinical knowledgebase evidence to aid in the scoring and interpretation of variants. This innovative approach is designed to enhance the efficiency of variant scientists as they navigate the complexities of variant processing and analysis. Overall, VSClinical stands out as a vital tool for accelerating the understanding and classification of genetic variants in clinical settings.
API Access
Has API
API Access
Has API
Integrations
Arch
CoinRoutes
GenomeBrowse
Inn-Flow
Lybra Assistant
VarSeq
Integrations
Arch
CoinRoutes
GenomeBrowse
Inn-Flow
Lybra Assistant
VarSeq
Pricing Details
Free
Free Trial
Free Version
Pricing Details
No price information available.
Free Trial
Free Version
Deployment
Web-Based
On-Premises
iPhone App
iPad App
Android App
Windows
Mac
Linux
Chromebook
Deployment
Web-Based
On-Premises
iPhone App
iPad App
Android App
Windows
Mac
Linux
Chromebook
Customer Support
Business Hours
Live Rep (24/7)
Online Support
Customer Support
Business Hours
Live Rep (24/7)
Online Support
Types of Training
Training Docs
Webinars
Live Training (Online)
In Person
Types of Training
Training Docs
Webinars
Live Training (Online)
In Person
Vendor Details
Company Name
Galaxy
Country
United States
Website
usegalaxy.org
Vendor Details
Company Name
Golden Helix
Founded
1998
Country
United States
Website
www.goldenhelix.com/products/VarSeq/vsclinical.html