Average Ratings 0 Ratings
Average Ratings 0 Ratings
Description
Efficient data management and streamlined bioinformatics solutions are essential for laboratories that are either just beginning or rapidly expanding their next-generation sequencing (NGS) capabilities. As an integral part of the BaseSpace Suite, BaseSpace Sequence Hub serves as a seamless extension to your Illumina instruments. The encrypted data transmission from these instruments into BaseSpace Sequence Hub simplifies the management and analysis of your data through a selection of specialized analysis applications. Built on the robust Amazon Web Services (AWS), BaseSpace Sequence Hub prioritizes security, ensuring a safe environment for your data. It allows users to initiate sequencing runs and monitor the quality of instrument operations effectively. This system enhances productivity by converting sequencing data into a standardized format and facilitating direct cloud streaming. Additionally, it grants access to necessary computational resources without the need for significant investments in on-premises infrastructure. Ultimately, it boosts organizational efficiency by providing easy access to a wide array of genomic analysis applications, whether developed by you, Illumina, or third-party providers, thus fostering innovation and progress in genomic research.
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
Yes
API Access
Has API
No
Integrations
Amazon Web Services (AWS)
Yes
GenomeBrowse
No
Illumina DRAGEN Secondary Analysis
Yes
Pluto
Yes
Scispot
Yes
VarSeq
No
Integrations
Amazon Web Services (AWS)
No
GenomeBrowse
Yes
Illumina DRAGEN Secondary Analysis
No
Pluto
No
Scispot
No
VarSeq
Yes
Pricing Details
No price information available.
Free Trial
Yes
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
Illumina
Country
United States
Website
www.illumina.com/products/by-type/informatics-products/basespace-sequence-hub.html
Vendor Details
Company Name
Golden Helix
Founded
1998
Country
United States
Website
www.goldenhelix.com/products/VarSeq/vsclinical.html