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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
g.nome is a cloud-native platform designed to offer efficient, scalable, and interoperable workflows tailored for next-generation sequencing analysis. It features a low-code/no-code approach to building pipelines, allowing users to access a curated library of pre-built workflows and toolkits. This empowers researchers to easily import their custom code, manage large datasets with confidence, and enhance collaboration among team members, regardless of their location.
By utilizing g.nome, researchers can eliminate longstanding obstacles related to workflow languages, visibility of process flows, and quality assurance. Consequently, they can concentrate entirely on their scientific endeavors, as g.nome transforms the complexities of genomic workflows into streamlined, efficient processes. This innovative platform not only simplifies research but also fosters an environment where scientific inquiry can thrive unhindered.
API Access
Has API
API Access
Has API
Screenshots View All
No images available
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
Golden Helix
Founded
1998
Country
United States
Website
www.goldenhelix.com/products/VarSeq/vsclinical.html
Vendor Details
Company Name
Almaden Genomics
Founded
2022
Country
United States
Website
almaden.io