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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 GenomeStudio?

GenomeStudio Software serves as a powerful tool for visualizing and analyzing data generated from Illumina array platforms, offering a sophisticated approach for handling genotyping microarray data. This comprehensive software suite not only boasts enhanced performance features but also presents an intuitive graphical interface, making it easy to convert raw data into meaningful insights. Users can delve into SNP and CNV data with access to an extensive selection of 5 million markers and probes, enabling the identification of unusual samples and the exploration of differentially expressed genes across various genomes. Moreover, the platform supports profiling of miRNA expression and integrates mRNA with microRNA data seamlessly in a unified project. It also allows for the detection of cytosine methylation at a single-base level, aiding in the examination of methylation patterns throughout the entire genome. At Illumina, our mission is to harness cutting-edge technologies to enhance the analysis of genetic variations and their functions, thus enabling research that was previously unattainable. We strive to offer innovative, flexible, and scalable solutions that meet the diverse requirements of our customers, ensuring that we stay at the leading edge of genetic research. This unwavering focus on innovation not only propels us forward but also fosters groundbreaking discoveries that can significantly deepen our understanding of biological processes and their implications. As such, our commitment to advancing genetic research is pivotal in shaping the future of life sciences.

Media

Media

Integrations Supported

Corefy
GenomeBrowse
VarSeq

Integrations Supported

Corefy
GenomeBrowse
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

Date Founded

1998

Company Location

United States

Company Website

www.illumina.com/techniques/microarrays/array-data-analysis-experimental-design/genomestudio.html

Categories and Features

Categories and Features

Data Analysis

Data Discovery
Data Visualization
High Volume Processing
Predictive Analytics
Regression Analysis
Sentiment Analysis
Statistical Modeling
Text Analytics

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