Automating Fastq to Clinical Report with Geneyx Analysis

Published: 04 August 2022

Eli Sward Ph.D.


In the field of next-generation sequencing, one essential feature is automation. Automation can enable increased scalability and faster turnaround times with improved diagnoses. If applied correctly, this not only benefits the clinical environment but also the field of precision medicine. And although many companies advertise this, Geneyx Analysis actually delivers it.

Geneyx Analysis is a complete clinical workflow solution. Within the application, users can upload fastq or VCF files from local or cloud infrastructures, perform the sequencing and interpretation, and render a customizable clinical report all in one solution. Geneyx Analysis eliminates the need to outsource to third-party applications for the different workflows and provides a transparent interface for all users of the application. Together, Geneyx Analysis reduces bioinformatic complexities and allows clinicians and geneticists to do what they do best: enable affordable and accurate results for their patients.

As shown in the snapshot above, users have many options when starting from fastq. Users can run, for example, GATK or DRAGEN (and soon Sentieon), implement somatic or germline workflows, and select from gene panels, exomes, or genomes. All opportunities are provided to our users to ensure that their customized workflow can be integrated. The best part about uploading fastq files is that command line experience is not required. Excel or text files can be loaded with the required sample IDs, and once the file is uploaded the pipeline starts.

In summary, Geneyx believes that every patient deserves to be diagnosed and treated with the value of genomics and genetic knowledge. Part of this requires automation and, with this, we are striving for a world without undiagnosed diseases. Geneyx is continuing to see the adoption of the platform on a global scale, and we would be happy to show you how this platform is a leading application in the NGS field. Whether it is starting from fastq or VCF, Geneyx can support your needs.

If you would like a demonstration of the software, or to learn more about the application, please contact support@geneyx.com.   

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Geneyx Analysis Version 5.9 Release

With more than 300 accounts and close to 200,000 cases analyzed, Geneyx Analysis is continuing to receive global adoption in clinical and academic settings. One differentiating feature that advances this adoption is our patient-centric vision. Our vision at Geneyx is to improve diagnostic rates and turnaround times. To do so requires implementing new and innovative features, and since the last release of Geneyx v5.8, there have been many exciting updates that are worth noting.

Improving Case Diagnosis with Geneyx Analysis

Geneyx Analysis is becoming adopted globally as a flexible and innovative solution for rare disease interpretation and has been shown to improve diagnostic yields by up to 65%. One of the many features that contribute to this capability is the utilization of a novel phenotype-dependent algorithm, which finds relevant associations between gene and phenotype ontologies. This feature is utilized by researchers and clinical geneticists to identify candidate variants and investigate literature for novel biomedical findings.

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We are proud to present fascinating findings in poster #eP105 at the coming ACMG 2022

Prof Revital Kariv, M.D, and her team diagnose and treat #coloncancer patients at the Tel Aviv Sourasky Medical Center. In recent research, utilizing the Geneyx Genomex Ltd. analysis platform, collaborating with Dvir Dahary, and Tel Aviv University, they identified novel mutations responsible for colon cancer predisposition.