An Important  Advancement in Genome Sequencing: Version 5.15

We are delighted to share the exciting news of the release of Geneyx Analysis version 5.16—a minor update that comes packed with several new features to kickstart the new year. Our commitment to innovation and user satisfaction is reflected in this release, aimed at enhancing your experience and providing valuable tools for your analyses.

Should you have any inquiries or require assistance related to the new features, please don’t hesitate to reach out to our dedicated support team at support@geneyx.com. Your satisfaction and success remain our top priorities.

Take a look our Geneyx Courses to understand our Geneyx Analysis software

and what is at the forefront of genomic analysis

API

– Utilization of Clinical Record for Phenotype Analysis:

• If a patient’s clinical record is accompanied by a phenotype, the ConcatSubjectPhenotypes of the CreateCase API will seamlessly integrate the phenotype into the generated case. https://github.com/geneyx/geneyx.analysis.api/wiki/Create-Case.
• This capability is also applicable to the Python scripts: https://github.com/geneyx/geneyx.analysis.api/tree/main/scripts.

– CNV/SV/Repeat Unification:

• Streamlining the consolidation of multiple VCFs for Copy Number Variations (CNVs), Structural Variations (SV), and repeats, a comprehensive video tutorial has been created. This tutorial guides users on efficiently merging these diverse files, enhancing the understanding of script usage for proper sample uploads. Access the tutorial at:
• Geneyx Analysis and PacBio Unify VCF

• Geneyx Analysis and Oxford Nanopore Technologies Unify VCF

– Closed Case Report List:

• The Closed Case Report List API facilitates the retrieval of all closed reports based on the specified date. For more details and access, visit 
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Annotation

– Gene Descriptions:

• Within the Setting dialog, a powerful Gene Descriptions feature has been integrated, allowing the meticulous curation of individual or bulk gene interpretations. This curated information reflects in the analysis when clicking on the Gene information column, and can be transferred to the final report, enhancing the depth and specificity of genetic insights.

– Variant Annotation:

• The variant annotation process in an analysis has been enriched with new fields for Variant Interpretation and Variant Level Recommendation. Once entered, this information will be stored for the respective variant throughout all downstream analyses. The interpretive insights can be applied to the final report, ensuring a comprehensive and traceable documentation of variant details.

– Phenotyper:

• The phenotypic prioritization tool has been refined to provide a more informative experience by including the publication year of displayed publications. Now, users can easily discern the chronological context of phenotypic data, adding a valuable layer of context to the prioritization process.
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Reporting

– Report Editor:

• Elevating customization capabilities, the enhanced Report Editor now introduces a sophisticated Report Configuration option. This empowers users to tailor the report layout with case-specific modifications, ensuring a dynamic and personalized presentation. Importantly, alterations made within this feature are exclusive to the specific report, avoiding unintended changes in other reports implementing the template configuration.

– Reports:

• Navigate effortlessly through the Reports section with the newly integrated features of “Reports for Review” and “Reports History” under the Report icon in the navigation window. The comprehensive Report History consolidates all generated reports, while Reports for Review strategically filters reports with a Sub-status assignment excluding “Closed.” This intuitive organization streamlines accessibility and retrieval of relevant reports.

– Report Configuration:

• Introducing two valuable fields, Limitations and References, in the Report Configuration. These fields come pre-populated with default information, providing a structured foundation for report content. This enhancement ensures a more detailed and standardized approach to report generation, enhancing the overall quality and accuracy of the information presented.

– JSON and PDF:

• Responding to user preferences, both JSON and PDF formats can now be seamlessly rendered together.

*For existing users accustomed to JSON-only reports, a quick update to the Report Template in the Settings dialog is necessary to unlock this integrated functionality.

Auditing

– VCF/Analyses/Subjects:

• Streamlining user experience, a new feature has been introduced in the VCF/Analyses/Subjects windows, allowing users to seamlessly export the list of samples. This convenient exporting capability enhances data accessibility, providing users with a quick and efficient method to download essential sample information directly from these windows.

– VCF Version Annotation:

• Elevating transparency in variant data, the VCF Samples dialog now displays the version of Geneyx used for annotation alongside each VCF. This enhancement ensures clarity regarding the annotation source, facilitating a more comprehensive understanding of the variant data and promoting informed decision-making throughout the analysis process. Stay updated with detailed insights into the annotation version for each VCF in your workflow.
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Thank you for choosing Geneyx Analysis. Here’s to a year filled with advancements and successful analyses!

Get in touch with our sales and distributor for details on this version release