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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 CZ CELLxGENE Discover?

Select two customized cell groups by leveraging metadata to identify their most distinctly expressed genes. Use the vast repository of millions of cells from the integrated CZ CELLxGENE database for comprehensive analysis. Engage in dynamic examinations of datasets to explore how gene expression patterns are shaped by spatial, environmental, and genetic factors through an intuitive no-code interface. This approach allows researchers to gain insights into existing datasets or utilize them as a springboard to uncover novel cell subtypes and states. Census enables access to any tailored segment of standardized cell data within the CZ CELLxGENE, with options for exploration in both R and Python environments. Immerse yourself in an interactive encyclopedia that features over 700 cell types, complete with detailed definitions, marker genes, lineage details, and related datasets all accessible in a single platform. In addition, researchers can browse and acquire an extensive array of standardized data collections, alongside more than 1,000 datasets that illuminate the functions of both healthy mouse and human tissues, significantly enhancing the study of cellular biology. This resource serves as an invaluable tool for scientists striving to deepen their understanding of cellular dynamics and gene expression, ultimately driving innovation in the field. Furthermore, the user-friendly interface promotes collaborative efforts among researchers, fostering a community of shared knowledge and discoveries.

Media

Media

Integrations Supported

GenomeBrowse
Python
R
VarSeq

Integrations Supported

GenomeBrowse
Python
R
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

CZ CELLxGENE

Company Location

United States

Company Website

cellxgene.cziscience.com

Categories and Features

Categories and Features

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