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features
design
support

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Write a Review

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 Yes 

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) No 
In Person No 

Types of Training

Training Docs Yes 
Webinars Yes 
Live Training (Online) Yes 
In Person Yes 

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 No 
Certificates of Analysis No 
Data Import / Export No 
Electronic Laboratory Notebook No 
Inventory Management No 
Lab Instrument Interface No 
Reporting & Statistics No 
Sample Tracking No 
Specification Management No 
Workflow Management No 

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