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ease
features
design
support

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Description

Utilize GenomeStudio Software to visualize and analyze data produced on Illumina array platforms, which provides an advanced solution for genotyping microarray data. This robust toolset offers performance-enhanced capabilities and an intuitive graphical interface, allowing for swift and effortless transformation of data into insightful outcomes. You can examine SNP and CNV data through a comprehensive array of 5 million markers and probes, identify sample outliers, and investigate differentially expressed genes among various genomes. Additionally, it facilitates the profiling of miRNA expression and allows you to merge mRNA with microRNA data within a single project. The software also enables the detection of cytosine methylation at single-base resolution and helps in identifying methylation patterns throughout the genome. At Illumina, we are dedicated to leveraging groundbreaking technologies to advance the analysis of genetic variations and functions, paving the way for research that was once beyond reach. Our commitment is to provide innovative, adaptable, and scalable solutions that effectively address our customers' diverse needs. Ultimately, this focus on innovation ensures that we remain at the forefront of genetic research, facilitating discoveries that can transform our understanding of biology.

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

Screenshots View All

Screenshots View All

Integrations

GenomeBrowse
VarSeq

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

Illumina

Founded

1998

Country

United States

Website

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

Vendor Details

Company Name

Golden Helix

Founded

1998

Country

United States

Website

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

Product Features

Data Analysis

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

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