As the rate of genomic progress continues to accelerate, so does the need for new tools and knowledge-sharing within the research community. At Illumina, we believe collaboration plays a key role in advancing the possibilities of genomics.
That’s why we develop a variety of bioinformatics tools and share them on Github, an open-source software sharing platform. This way, researchers around the world can continually test, iterate, and share updates with the genomic community.
These open-source bioinformatics tools are free and available on Github. Explore the list below to find tools that meet your specific needs.
A tool to genotype the drug-metabolizing enzyme gene CYP2D6 using whole-genome sequencing data.
A tool for genotyping repeats and detecting repeat expansions.
A suite of graph-based genotyping tools, specifically optimized for structural variants in short-read sequencing data.
A deep residual neural network for classifying the pathogenicity of missense mutations.
A computational method for visualization of sequencing data in genomic regions containing long repeat expansions.
A copy number caller for SMN1 and SMN2 to enable spinal muscular atrophy and carrier screening studies using whole-genome sequencing data.
A deep learning-based tool to identify splice variants and predict splice junctions.
The Broad Institute and Illumina have partnered to co-develop and improve upon genomic analysis pipelines. Eric Banks of the Broad Institute highlights the development and ehnancement of a DRAGEN-GATK Best Practices pipeline. He also explains how the development team assessed functional equivalency between the open source and licensed version of the pipeline.View Webinar
Provides accurate, ultra-rapid secondary genomic analysis of sequencing data for diverse applications.Learn More
Data management and simplified bioinformatics for labs getting started and for rapidly scaling next-generation sequencing operations.Learn More
A modular, secure data platform for scalable multiomics data management, analysis, and exploration.Learn More
We offer a variety of resources and information to help simplify the process of setting up your informatics infrastructure and data analysis pipeline.
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