Genome Analysis Toolkit (GATK)
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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Congenica
We drive precision medicine and help reduce the burden on healthcare systems by delivering automated analysis, diagnosis, and treatment solutions to healthcare providers and patients worldwide. Congenica was founded on pioneering work at the Wellcome Sanger Institute and the UK NHS. Our products combine state-of-the-art technology, market-leading automation, and AI to enable our uniquely differentiated platform to be employed in all areas of human disease where genomic information is key to unlocking actionable insights. We are a digital health company providing software and solutions for the analysis and interpretation of genomic data at scale. Full automation with powerful APIs and ML to reduce the burden on specialist staff, maximize case throughput, accelerate decision-making, and streamline reporting. Certified, accurate, and secure analysis platform to support clinical decisions with the highest degree of confidence in the clinical outcome.
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XetaBase
The unique XetaBase platform simplifies tertiary analysis, aggregating, indexing, and enriching secondary genomic data, enabling continual re-interpretation to unlock research and clinical insight. XetaBase accelerates data management and the cost-effective application of genomic data in the lab and clinic. XetaBase encompasses genomic scale, the greater the volume and complexity, the greater the insight and outcomes. XetaBase is a genomic-native technology, built on the open-source, OpenCB software platform to meet the scale, speed, and re-interpretation demands of genomic medicine. Zetta Genomics delivers genomic data management fit for the precision medicine age. XetaBase is a completely novel solution to the challenges of genomic data. It sweeps away obsolete flat file approaches to bring meaningful and actionable genomic data into the lab and the clinic. XetaBase empowers continual re-interpretation while scaling seamlessly as databases grow to encompass genome sequences.
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Emedgene
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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