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Description

Our worldwide data-sharing network produces actionable clinical insights from data aimed at enhancing patient outcomes on a global scale. SOPHiA GENETICS is dedicated to shaping the future of AI-enhanced medicine. By integrating various healthcare-omics data types, we are dismantling existing data barriers and creating machine learning models that yield insights capable of aiding healthcare professionals in elevating patient care. The updated interface, along with new features and advanced functionalities, will further expedite precision medicine workflows, bringing us closer to making data-driven healthcare accessible to all. Utilizing the power of AI and machine learning (ML), our cloud-based platform offers a secure and easily accessible space for the standardization, computation, and analysis of digital health data, which generates insights from intricate multimodal data sets that can significantly enhance diagnostic processes, therapy choices, analytical methods, and drug development initiatives. Moreover, our continuous evolution reflects our commitment to innovation in the healthcare sector.

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 No 

API Access

Has API No 

Screenshots View All

Screenshots View All

Integrations

GenomeBrowse No 
VarSeq No 

Integrations

GenomeBrowse Yes 
VarSeq Yes 

Pricing Details

No price information available.
Free Trial No 
Free Version No 

Pricing Details

No price information available.
Free Trial Yes 
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) Yes 
In Person Yes 

Vendor Details

Company Name

SOPHiA GENETICS

Founded

2011

Country

Switzerland

Website

www.sophiagenetics.com

Vendor Details

Company Name

Golden Helix

Founded

1998

Country

United States

Website

www.goldenhelix.com/products/VarSeq/vsclinical.html

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