A novel, Knowledge-Driven NGS Interpretation & Reporting Platform

Rapid analysis and interpretation with a higher diagnostic yield

Geneyx Analysis’ is a novel, knowledge-driven Next Generation Sequencing (NGS) analysis, interpretation, and reporting engine, which leverages the popular GeneCards Knowledgebase suite [1]. It enables rapid diagnosis of causal mutations, collecting clinical and molecular information from >120 data sources, and prioritizing variants based on their association with patients’ exhibited phenotypes. ‘Geneyx analysis’ engine, offers market-leading diagnostic yields (above 50% in rare disorders on WES) and reduced turnaround time from hours or days to minutes [2]. Built for the future of genomic analysis, it offers best-in-class phenotype-driven structural and copy number variation interpretation on coding and regulatory regions [3]. To date, ‘Geneyx analysis’ and the GeneCards suite have helped in the analysis of tens of thousands of clinical genetic cases world-wide.

Benefits and Features

Best-of-breed scoring and prioritization of variants based on association with disease/phenotypes of interest [2]

• Comprehensive evidence for each association for the evaluation of variants and- reporting

• Leverages the extensive data available in the GeneCards Suite Knowledgebase [1]

• Supports free-text searching for phenotypes, as well as direct and indirect gene-phenotype          relationships [4]

• Designed for single samples, trios and pedigree trees (incl. integrated compound heterozygous analysis) [2]

• Best-in-class phenotype-driven structural and copy number variation interpretation on coding and regulatory regions [2]


References 1. Stelzer G, Rosen N, Plaschkes I et al. The GeneCards Suite: From Gene Data Mining to Disease Genome Sequence Analyses. Curr Protoc Bioinformatics (2016) 2. Dahary, D, Golan, Y, Mazor Y et al. Genome analysis and knowledge-driven variant interpretation with TGex. BMC Med Genomics (2019). 3. Suwinski P, Ong C, Ling MHT et al. Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. Frontiers in Genetics (2019) 4. Stelzer G, Plaschkes I, Oz-Levi D et al. VarElect: the phenotype-based variation prioritizer of the GeneCards Suite. BMC Genomics (2016)

  

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