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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
Genome Computer allows you to transform your genetic information into a downloadable, AI-compatible .genome bundle that you can store, self-host, and analyze using tools like Genome Intelligence, Codex, Claude Code, Cursor, or others that are compatible. This open format reorganizes the standard data typically found in a VCF into a structured and queryable bundle, with variants neatly arranged in swift columnar tables alongside trait associations, facilitating research and providing insights into gene-level context, polygenic scores, pharmacogenomics, and clear data lineage. Orders for whole-genome sequencing are derived from gVCF data, ensuring that both identified variants and confidently sequenced regions where no variants exist are preserved, with FASTQ files available upon request. Additionally, VCF or TXT files from other providers can be seamlessly converted, imputed where necessary, annotated, scored, and prepared for AI analysis. With Genome Intelligence, users can pose questions based on their specific genetic information, juxtapose new research with their genotypes, and delve deeper into the field of genetics, ultimately enriching their understanding of personal health and ancestry. This capability empowers individuals to take control of their genetic data and engage with it in ways previously not possible.
API Access
Has API
API Access
Has API
Pricing Details
Free
Free Trial
Free Version
Pricing Details
$15 per month
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
Genome Computer
Country
United States
Website
genome.computer/