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Description
PacBio (Pacific Biosciences) is a premier life science technology company that is designing, developing and manufacturing advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications.
The Revio system adds affordability, high throughput, and ease of use to a foundation of long reads, exceptional accuracy, and direct methylation detection.
The Onso system is an innovative benchtop short-read DNA sequencing platform with an extraordinary level of accuracy using PacBio sequencing by binding.
Software tools for Sequel II/IIe and Revio systems designed to set up and monitor long-read HiFi sequencing runs, review performance metrics, analyze, visualize, and annotate sequencing data.
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
Pacific Biosciences (PacBio)
Founded
2004
Country
United States
Website
www.pacb.com/products-and-services/
Vendor Details
Company Name
Golden Helix
Founded
1998
Country
United States
Website
www.goldenhelix.com/products/VarSeq/vsclinical.html
Product Features
LIMS
Audit Trail
Certificates of Analysis
Data Import / Export
Electronic Laboratory Notebook
Inventory Management
Lab Instrument Interface
Reporting & Statistics
Sample Tracking
Specification Management
Workflow Management