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What is VSClinical?

VSClinical enhances the clinical evaluation of genetic variants by aligning with the guidelines set forth by the ACMG and AMP. Its organized workflow ensures compliance with the standards established by the American College of Medical Genetics (ACMG), which are crucial for identifying and classifying pathogenic variants associated with inherited diseases, cancer risk, and rare diagnoses. The integrated ACMG/AMP guidelines for variant interpretation provide a systematic approach for scoring variants and placing them into one of five classification categories. To effectively implement these guidelines, a comprehensive analysis of annotations, genomic contexts, and existing clinical data for each variant is required. VSClinical simplifies this task by delivering a tailored workflow that assesses each pertinent criterion while offering extensive bioinformatics resources, literary references, and insights from clinical databases to support the scoring and interpretation process. This forward-thinking method aims to improve the productivity of variant scientists as they manage the intricacies of variant analysis and processing. Ultimately, VSClinical emerges as a crucial resource for expediting the understanding and classification of genetic variants within clinical environments, fostering better patient outcomes through informed decision-making. Its role in facilitating efficient variant analysis cannot be overstated, as it significantly contributes to the advancement of personalized medicine.

What is Emedgene?

Emedgene enhances the processes associated with tertiary analysis in the fields of rare disease genomics and various germline research projects. The platform is designed to improve the speed and consistency of interpreting, prioritizing, curating, and producing research reports on user-defined variants. By utilizing explainable AI (XAI) and automation, Emedgene significantly increases efficiency across a range of analysis workflows, including genomes, exomes, virtual panels, and targeted panels. It also aids in merging laboratory operations and next-generation sequencing (NGS) instruments with IT systems, thereby optimizing and securing the entire workflow. As science and technology continue to evolve alongside growing demands, Emedgene provides users with the latest advancements through innovative knowledge graph features, curation tools, and expert assistance throughout their research endeavors. Additionally, laboratories can enhance their throughput without needing to hire extra personnel, thanks to the capabilities of XAI and automated systems. Ultimately, Emedgene supports the implementation of high-throughput workflows for whole genome sequencing (WGS), whole exome sequencing (WES), virtual panels, or targeted panels, all of which seamlessly integrate into the digital infrastructure of any laboratory. This holistic approach ensures that researchers can dedicate their efforts to uncovering new insights while benefiting from reliable technological support that evolves with their needs. By streamlining these complex processes, Emedgene empowers researchers to maximize their potential and drive impactful discoveries in genomics.

Media

Media

Integrations Supported

GenomeBrowse
Illumina DRAGEN Secondary Analysis
VarSeq

Integrations Supported

GenomeBrowse
Illumina DRAGEN Secondary Analysis
VarSeq

API Availability

Has API

API Availability

Has API

Pricing Information

Pricing not provided.
Free Trial Offered?
Free Version

Pricing Information

Pricing not provided.
Free Trial Offered?
Free Version

Supported Platforms

SaaS
Android
iPhone
iPad
Windows
Mac
On-Prem
Chromebook
Linux

Supported Platforms

SaaS
Android
iPhone
iPad
Windows
Mac
On-Prem
Chromebook
Linux

Customer Service / Support

Standard Support
24 Hour Support
Web-Based Support

Customer Service / Support

Standard Support
24 Hour Support
Web-Based Support

Training Options

Documentation Hub
Webinars
Online Training
On-Site Training

Training Options

Documentation Hub
Webinars
Online Training
On-Site Training

Company Facts

Organization Name

Golden Helix

Date Founded

1998

Company Location

United States

Company Website

www.goldenhelix.com/products/VarSeq/vsclinical.html

Company Facts

Organization Name

Illumina

Company Location

United States

Company Website

www.illumina.com/products/by-type/informatics-products/emedgene.html

Categories and Features

Categories and Features

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