Sold by: OmicsDiscoveries GmbH
Deployed on AWS
An interactive SaaS platform designed to assist geneticists in the interpretation of genetic variants by leveraging RNA-seq data to identify expression and splicing outliers and allelic imbalance.
Overview
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.
Highlights
- Scientifically Rooted: Based on the DROP pipeline and the OUTRIDER/FRASER algorithms utilized by international research consortia.
- Molecular Insights: Identifies aberrant expression and splicing events to provide functional evidence for variant interpretation.
- Genotype-Phenotype Integration: Streamlines the review process by linking RNA-seq findings with HPO terms and VCF data.
Details
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Deployed on AWS
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Pricing
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Dimension | Description | Cost/month |
|---|---|---|
1 sample | Price for 1 RNA-seq sample to be processed via RNAvision | $229.00 |
Dimensions summary
RNAvision uses a single pricing dimension based on the number of RNA-seq samples you process. You pay per sample, so your cost scales directly with how many samples you submit. There are no tiers or instance sizes to choose from. You upload your raw sequencing data, RNAvision processes each sample, and you interpret the results on the platform. The vendor recommends processing at least eight samples per batch for reliable normalization, but you are billed per individual sample.
Top-of-mind questions for buyers
One sample is a single RNA-seq dataset you upload for processing. You provide raw sequencing data in FASTQ or BAM format, plus a sample annotation file. Each dataset processed through RNAvision counts as one billable unit, so your cost tracks the number of samples you submit.
No. The eight-sample batch guidance supports reliable normalization of results, not billing. You are still charged per individual sample. Submitting a batch of eight means you pay for eight samples. The recommendation affects analysis quality, not how charges accrue.
The vendor recommends uploading DNA variant calls in VCF format and a sample annotation file so genetic variants display next to RNA-seq results. These inputs support the analysis of each sample you submit. The pricing table lists only the per-sample charge, so contact the vendor to confirm any extra costs.
omicsdiscoveries.com
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