RNAvision: Advanced RNA-seq Analysis for Rare Disease Research

RNAvision is a cloud-native bioinformatics platform developed to assist geneticists in navigating the complexities of transcriptomic data. Developed by the team behind the open-source tools OUTRIDER, FRASER, and DROP, the platform provides a interactive analysis platform for the detection of RNA-seq-based outliers that may be linked to rare genetic conditions.

The platform facilitates the integration of RNA-sequencing results with existing genotype data and clinical phenotypes (HPO terms). This multidimensional approach helps clinicians prioritize variants that may otherwise remain of uncertain significance (VUS) in DNA-only workflows.

Technical Capabilities:

• Expression Outlier Detection: Utilizes the OUTRIDER algorithm to identify significant deviations in gene expression, such as those caused by nonsense-mediated decay (NMD).
• Splicing Analysis: Implements the FRASER algorithm to detect aberrant splicing events, including exon skipping, cryptic splice site activation, and intronic retention.
• Mono-allelic Expression (MAE): Facilitates the identification of variants through imbalanced parental allele expression.
• Interactive Variant Prioritization: A web-based dashboard allows users to filter and visualize results, integrating molecular findings with phenotypic data for more informed interpretation.

Implementation & Onboarding: RNAvision is designed for secure integration into clinical and research workflows. To ensure data security and proper pipeline configuration, every subscription includes a mandatory onboarding process. Our team provides technical support to establish secure data transfer and assist with initial platform configuration.

All services provided by OmicsDiscoveries GmbH, including RNAvision, are intended for research use only.