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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 Genome Analysis Toolkit (GATK)?

Developed by the Data Sciences Platform at the Broad Institute, this all-encompassing toolkit offers a broad spectrum of features that focus largely on variant discovery and genotyping. It boasts a powerful processing engine along with high-performance computing capabilities, making it suitable for handling projects of any size. The GATK is recognized as the gold standard for identifying SNPs and indels in germline DNA as well as RNA sequencing data. Its functionalities are expanding to include detection of somatic short variants, as well as tackling copy number variations (CNV) and structural variations (SV). In addition to the primary variant callers, the GATK features a variety of utilities designed for performing related tasks, such as processing and ensuring the quality of high-throughput sequencing data, and it is complemented by the renowned Picard toolkit. Initially tailored for exome and whole genome data produced by Illumina sequencing technologies, these tools exhibit enough flexibility to adapt to various other sequencing technologies and study designs. As the field of genomics continues to advance, the GATK's versatility guarantees its ongoing relevance in a wide range of genomic research projects, ensuring that it remains a pivotal resource for scientists exploring genetic variations.

Media

Media

Integrations Supported

Docker
GenomeBrowse
VarSeq

Integrations Supported

Docker
GenomeBrowse
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

Broad Institute

Company Location

United States

Company Website

gatk.broadinstitute.org/hc/

Categories and Features

Categories and Features

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