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.

New Features:

  • A Variant Browser has been developed to enable queries of SNVs across all samples in an account. This will allow for unique filtering logic to be set and will show up to 100,000 variants.
  • Customizable report configuration capabilities can now be performed by the user. Users can add lab details, logos, introductions, methods, disclaimers, and signatures to the report.
  • New API scripts are available, and all scripts have been updated with more detail to improve useability.
  • When running a tumor analysis with exomes, a panel of normals can be selected for improved calling. Furthermore, structural variants can also be displayed for tumor workflows.
  • Variants with conflicting evidence in ClinVar are now displayed with the conflicting assignments to allow better filtering strategies.
  • QC data for batch processes is now summarized and provided in an intuitive format.
  • Outdated annotation sources have been updated.

Recommendation:

  • Approximately 100 gene names derived from HGNC have been updated. If you want to see these changes in a previous case, you will need to perform a reanalysis. Updating the phenotyper of a previous sample alone will not show these changes.  

A main highlight of this release is the Variant Browser, which allows users to create filter logic utilizing all annotation sources, as well as phenotype information, to identify candidate variants present across all samples in the account. The results can be exported and saved and used for additional downstream analyses. This will allow users to see variants that are observed in more than one sample as well as relevant annotation information.

Geneyx is also continuing to improve its market presence by providing relevant online material and attending conferences. Our previous webinar focused on how Geneyx was used in a clinical setting to analyze whole genome sequencing data with a Parkinson patient that was undiagnosed with exome sequencing. If you didn’t have a chance to make it, the recording is available here. We also were grateful to interact with many customers at the Precision Medicine World Conference (PMWC) in Santa Clara, California, and are looking forward to the American Society of Human Genetics (ASHG) in Los Angeles, October 25-29th. If you are attending, please stop by our booth, #2133.

As always, we are grateful to our customers that continue to use Geneyx for their NGS interpretation. If there are features that you would like to see that would improve Geneyx Analysis, please contact support@geneyx.com with your suggestions.  

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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

What is better as an initial test WES or WGS? A recent paper in the European Journal of Human Genetics put this notion to the test. They found that out of 91 patients across 64 families with undiagnosed Mendelian disorders, in New South Wales, Australia, 13 of the 38 unresolved families (34%) were diagnosed when using WGS instead of WES. Previous WES analyses failed to resolve these cases due to previously unknown gene-disease association (23%), insufficient sequencing coverage (31%), the variant prioritization pipeline (15%), and the bioinformatics pipeline (23%), or CNV detection (8%). Comparing the diagnostic yield over these 64 families revealed a 9% increase in diagnostic yield by using WGS at the outset rather than contemporary WES analysis. As scientific knowledge accumulates both the analysis capabilities improve, hence periodical re-analysis of old unresolved cases might provide a genetical resolution.

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.

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Automating FASTQ to Clinical Report with Geneyx Analysis

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.

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.
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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

What is better as an initial test WES or WGS? A recent paper in the European Journal of Human Genetics put this notion to the test. They found that out of 91 patients across 64 families with undiagnosed Mendelian disorders, in New South Wales, Australia, 13 of the 38 unresolved families (34%) were diagnosed when using WGS instead of WES. Previous WES analyses failed to resolve these cases due to previously unknown gene-disease association (23%), insufficient sequencing coverage (31%), the variant prioritization pipeline (15%), and the bioinformatics pipeline (23%), or CNV detection (8%). Comparing the diagnostic yield over these 64 families revealed a 9% increase in diagnostic yield by using WGS at the outset rather than contemporary WES analysis. As scientific knowledge accumulates both the analysis capabilities improve, hence periodical re-analysis of old unresolved cases might provide a genetical resolution.

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 dramatically improve diagnostic yields. 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.

Automating FASTQ to Clinical Report with Geneyx Analysis

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.

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.
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