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- Outdated annotation sources have been updated.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.
