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features
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support

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Description

Emedgene optimizes the workflows involved in tertiary analysis for rare disease genomics and various germline research endeavors. It is specifically built to enhance the speed and reliability of interpreting, prioritizing, curating, and generating research reports for user-defined variants. By incorporating explainable AI (XAI) and automation, Emedgene boosts efficiency across diverse analysis workflows, including genomes, exomes, virtual panels, and targeted panels. The platform facilitates the integration of laboratory processes and NGS instruments with IT systems, streamlining and securing the entire workflow. With continuous advancements in science, technology, and demand, Emedgene empowers users to stay current by offering cutting-edge knowledge graph features, curation tools, and expert support throughout their research journey. Furthermore, it allows laboratories to increase their throughput without the need for additional personnel, thanks to XAI and automated processes. Ultimately, Emedgene enables the deployment of high-throughput workflows for whole genome sequencing (WGS), whole exome sequencing (WES), virtual panels, or targeted panels that seamlessly fit into the digital framework of any lab. This comprehensive approach ensures that researchers can focus on their discoveries while relying on robust technological support.

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.

API Access

Has API Yes 

API Access

Has API No 

Screenshots View All

Screenshots View All

Integrations

Docker No 
Illumina DRAGEN Secondary Analysis Yes 

Integrations

Docker Yes 
Illumina DRAGEN Secondary Analysis No 

Pricing Details

No price information available.
Free Trial Yes 
Free Version No 

Pricing Details

Free
Free Trial No 
Free Version Yes 

Deployment

Web-Based Yes 
On-Premises No 
iPhone App No 
iPad App No 
Android App No 
Windows No 
Mac No 
Linux No 
Chromebook No 

Deployment

Web-Based Yes 
On-Premises No 
iPhone App No 
iPad App No 
Android App No 
Windows Yes 
Mac Yes 
Linux Yes 
Chromebook No 

Customer Support

Business Hours Yes 
Live Rep (24/7) No 
Online Support Yes 

Customer Support

Business Hours No 
Live Rep (24/7) No 
Online Support Yes 

Types of Training

Training Docs Yes 
Webinars Yes 
Live Training (Online) Yes 
In Person Yes 

Types of Training

Training Docs Yes 
Webinars Yes 
Live Training (Online) No 
In Person No 

Vendor Details

Company Name

Illumina

Country

United States

Website

www.illumina.com/products/by-type/informatics-products/emedgene.html

Vendor Details

Company Name

Broad Institute

Country

United States

Website

gatk.broadinstitute.org/hc/

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