EmedgeneIllumina
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Genome Analysis Toolkit (GATK)Broad Institute
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About
Emedgene streamlines your tertiary analysis workflows for rare disease genomics and other germline research applications. Emedgene is designed to accelerate the time and certainty in user-defined variant interpretation, prioritization, curation, and research report generation. Enable greater efficiency from your tertiary analysis workflows with explainable AI (XAI) and automation supporting genomes, exomes, virtual panels, and targeted panels. Unify your laboratory and NGS instrumentation with your IT systems to simplify and secure your complete workflow. Confidently keep pace with evolving science, technology, and demand with up-to-date knowledge graph options, curation capabilities, and a team of experts to support your journey. Increase throughput without increasing headcount using explainable AI (XAI) and automated workflows. Implement a high throughput WGS, WES, virtual panel, or targeted panel workflow that is integrated into your lab's digital ecosystem.
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About
Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. The GATK is the industry standard for identifying SNPs and indels in germline DNA and RNAseq data. Its scope is now expanding to include somatic short variant calling and to tackle copy number (CNV) and structural variation (SV). In addition to the variant callers themselves, the GATK also includes many utilities to perform related tasks such as processing and quality control of high-throughput sequencing data and bundles the popular Picard toolkit. These tools were primarily designed to process exomes and whole genomes generated with Illumina sequencing technology, but they can be adapted to handle a variety of other technologies and experimental designs.
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Platforms Supported
Windows
Mac
Linux
Cloud
On-Premises
iPhone
iPad
Android
Chromebook
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Platforms Supported
Windows
Mac
Linux
Cloud
On-Premises
iPhone
iPad
Android
Chromebook
|
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Audience
Healthcare professionals in search of a tool to unlock genomic insights for hereditary disease
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Audience
Researchers wanting a solution to analyze, manage, and handle genome data
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Support
Phone Support
24/7 Live Support
Online
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Support
Phone Support
24/7 Live Support
Online
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API
Offers API
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API
Offers API
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Pricing
No information available.
Free Version
Free Trial
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Pricing
Free
Free Version
Free Trial
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Reviews/
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Reviews/
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Training
Documentation
Webinars
Live Online
In Person
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Training
Documentation
Webinars
Live Online
In Person
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Company InformationIllumina
United States
www.illumina.com/products/by-type/informatics-products/emedgene.html
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Company InformationBroad Institute
United States
gatk.broadinstitute.org/hc/
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