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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
API Access
Has API
Integrations
GenomeBrowse
VarSeq
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
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