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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
API Access
Has API
Pricing Details
No price information available.
Free Trial
Free Version
Pricing Details
Free
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
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/