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Description

Created within the Data Sciences Platform at the Broad Institute, this comprehensive toolkit provides an extensive array of features primarily aimed at variant discovery and genotyping. With its robust processing engine and high-performance computing capabilities, it is equipped to manage projects of any magnitude. The GATK has established itself as the industry benchmark for detecting SNPs and indels in both germline DNA and RNA sequencing data. Its functionalities are now broadening to encompass somatic short variant detection as well as addressing copy number variations (CNV) and structural variations (SV). Besides the core variant callers, the GATK incorporates numerous utilities for executing associated tasks, including the processing and quality assurance of high-throughput sequencing data, and it comes bundled with the well-known Picard toolkit. Originally designed for exome and whole genome data generated via Illumina sequencing technology, these tools are versatile enough to be modified for use with various other technologies and study designs. As research evolves, the adaptability of the GATK ensures it remains relevant in diverse genomic investigations.

Description

Pharmaceutical companies require extensive genomic data to effectively implement precision medicine initiatives; however, they frequently rely on merely 10% of the available information for their decisions. Genomenon provides access to the complete dataset. Their Prodigy™ Patient Landscapes offer a streamlined and economical solution for natural history research, aiding the creation of therapies for rare diseases by deepening understanding of both retrospective and prospective health data. Utilizing an advanced AI-driven methodology, Genomenon conducts a thorough evaluation of each patient documented in the medical literature in a significantly reduced timeframe. Ensure you capture all relevant insights by exploring every genomic biomarker featured in published studies. Each scientific claim is substantiated by concrete evidence drawn from the medical literature, allowing researchers to uncover all genetic drivers and identify variants recognized as pathogenic in accordance with ACMG clinical standards, thereby enhancing the development process of targeted therapies. By leveraging this comprehensive approach, pharma companies can enhance their research effectiveness and ultimately improve patient outcomes.

API Access

Has API

API Access

Has API

Screenshots View All

Screenshots View All

Integrations

Docker
Google Cloud Platform

Integrations

Docker
Google Cloud Platform

Pricing Details

Free
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

Broad Institute

Country

United States

Website

gatk.broadinstitute.org/hc/

Vendor Details

Company Name

Genomenon

Country

United States

Website

www.genomenon.com/pharma/

Alternatives

Alternatives

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VSClinical

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VarSeq

Golden Helix