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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 This transformative platform eliminates outdated flat file methods, introducing actionable and relevant genomic data into both laboratory and clinical environments.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 No 

API Access

Has API Yes 

Screenshots View All

Screenshots View All

Integrations

GenomeBrowse Yes 
Microsoft Azure No 
Python No 
R No 
VarSeq Yes 

Integrations

GenomeBrowse No 
Microsoft Azure Yes 
Python Yes 
R Yes 
VarSeq No 

Pricing Details

No price information available.
Free Trial Yes 
Free Version No 

Pricing Details

No price information available.
Free Trial No 
Free Version No 

Deployment

Web-Based Yes 
On-Premises No 
iPhone App No 
iPad App No 
Android App No 
Windows No 
Mac No 
Linux No 
Chromebook No 

Deployment

Web-Based Yes 
On-Premises No 
iPhone App No 
iPad App No 
Android App No 
Windows No 
Mac No 
Linux No 
Chromebook No 

Customer Support

Business Hours Yes 
Live Rep (24/7) No 
Online Support Yes 

Customer Support

Business Hours Yes 
Live Rep (24/7) No 
Online Support Yes 

Types of Training

Training Docs Yes 
Webinars Yes 
Live Training (Online) Yes 
In Person Yes 

Types of Training

Training Docs Yes 
Webinars Yes 
Live Training (Online) No 
In Person Yes 

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

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