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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 BioTuring Browser?

Explore an extensive range of meticulously assembled single-cell transcriptome datasets, including your own, through dynamic visualization and analytical capabilities. This adaptable software supports various modalities such as multimodal omics, CITE-seq, TCR-seq, and spatial transcriptomics. Engage with the world’s most comprehensive single-cell expression database, where millions of fully annotated cells, complete with cell type designations and experimental metadata, are readily accessible for insight extraction. Serving not just as a bridge to published research, the BioTuring Browser is a holistic end-to-end solution designed to meet your unique single-cell data requirements. You can effortlessly import fastq files, count matrices, or Seurat and Scanpy objects to reveal the biological stories they hold. With its user-friendly interface, you have access to a vast selection of visualizations and analyses, making the process of deriving insights from curated or personal single-cell datasets smooth and efficient. Furthermore, the platform supports the importation of single-cell CRISPR screening or Perturb-seq data, allowing users to easily query guide RNA sequences. This added functionality significantly boosts research capabilities while paving the way for the uncovering of new biological discoveries. Overall, BioTuring Browser stands as a powerful tool for advancing single-cell research and enhancing your scientific endeavors.

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

Free
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

BioTuring Browser

Company Location

United States

Company Website

bioturing.com/bbrowser

Categories and Features

Categories and Features

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