Published: 4 August 2022
Geneyx Analysis is becoming adopted globally as a flexible 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 utilizing 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.
The power of this algorithm is literature. Specifically, databases containing publications are scanned to find associations between the gene of interest and the phenotype of the patient. The more literature identified the stronger the correlation and phenotype score. Staying up to date on literature can be a very tedious process, yet Geneyx Analysis does this through an automated process to ensure the most recent literature is being displayed to our users. This in turn alleviates the manual complexities of searching for relevant publications and staying up to date on additional annotation sources. From a user perspective, the phenotyping algorithm in Geneyx Analysis provides comprehensive information on the variant, gene, and disease in question. Diseases related to the gene and relevant publications will be displayed to allow the user to understand what findings support the association. Similar information is displayed on the gene and variant levels. This interface offers a comprehensive and consolidated view for easy browsing and highlights the key search terms extracted from the publications
Coupled with the ability to deep dive into the literature is a calculated and prioritized gene list. When applied to the filtering protocol, the candidate variant is likely to be listed in the top 5 rows of the protocol. Geneyx analysis also supports a multitude of other annotation sources that can confirm the findings. Additionally, if an interpretation is made on the variant or gene level, it will improve the score for that variant and gene the next time it is encountered. This enables an AI-based feature with the Geneyx Analysis application and automates the process of variant classification.
In summary, Geneyx Analysis is an end-to-end solution for next-generation sequencing (NGS) data. Deployment can be cloud-based or on-premises, and users can start from fastq or VCF and generate fully customizable clinical reports. Geneyx Analysis has many innovative features, but one discussed herein was the phenotype-dependent algorithm. Implementation of this feature has been shown to significantly improve diagnostic yields for many of our customers and we would be happy to show you how it could improve your case diagnostics. If you are interested in learning more about this feature or how Geneyx could be integrated into your specific workflow, please contact support@geneyx.com.
