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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.
Description
The innovative XetaBase platform streamlines tertiary analysis by aggregating, indexing, and enriching secondary genomic data, which facilitates ongoing re-evaluation to reveal valuable insights for research and clinical applications. By enhancing data management practices, XetaBase allows for the economical utilization of genomic information both in laboratories and clinical settings. The platform is designed to handle expansive genomic datasets, where increased volume and complexity lead to improved insights and outcomes. Built on the open-source OpenCB software framework, XetaBase is a genomic-native technology that addresses the demands for scalability, speed, and innovative re-interpretation in genomic medicine. Zetta Genomics provides an advanced genomic data management solution tailored for the era of precision medicine. This transformative platform eliminates outdated flat file methods, introducing actionable and relevant genomic data into both laboratory and clinical environments. Furthermore, XetaBase not only supports ongoing re-interpretation but also adapts effortlessly as databases expand to include more comprehensive genome sequences, ensuring that users stay at the forefront of genomic advancements.
API Access
Has API
API Access
Has API
Pricing Details
No price information available.
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
Golden Helix
Founded
1998
Country
United States
Website
www.goldenhelix.com/products/VarSeq/vsclinical.html
Vendor Details
Company Name
Zetta Genomics
Founded
2018
Country
England
Website
zettagenomics.com