Genome Analysis Toolkit (GATK)Broad Institute
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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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About
SeqOne is an AI-powered genomic analysis platform designed to help molecular laboratories, clinical teams, biologists, and geneticists transform complex next-generation sequencing data into fast, precise, and actionable clinical insights to support personalized medicine diagnostics. It streamlines end-to-end genomic workflows, from raw sequencing files to variant interpretation and reporting, by automating routine pipeline tasks, integrating seamlessly with lab systems, and using advanced AI models such as DiagAI to rank and highlight disease-relevant variants with explainable scores, reducing manual effort and turnaround time. SeqOne supports germline and somatic analyses across applications, including oncology, rare and inherited diseases, and infectious disease detection, combining premium annotation databases and standardized interpretation guidelines to ensure clinical-grade accuracy within an intuitive user interface that scales via secure cloud.
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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
Researchers wanting a solution to analyze, manage, and handle genome data
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Audience
Molecular diagnostic labs and clinical genomics teams needing AI-driven tools to automate NGS data analysis and deliver rapid, accurate genomic insights for healthcare decision-making
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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
Free
Free Version
Free Trial
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Pricing
No information available.
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 InformationBroad Institute
United States
gatk.broadinstitute.org/hc/
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Company InformationSeqOne
Founded: 2017
France
www.seqone.com
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Integrations
Docker
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