Resources & FAQ

Here you will find various resources containing our offerings. Also, you can find the answers to the most common questions about our analyses. Cannot find your answer? Don't hesitate in contacting us!

Frequently Asked Questions

Which input files are needed for the analysis?

The analysis begins with raw RNA sequencing data (in FASTQ or BAM format). We also recommend uploading variant calls from DNA sequencing in VCF format to display the genetic variants alongside the RNA-seq results. Additionally, a sample annotation file is needed, containing individual, sample and experimental metadata. This may include HPO terms, which are used to prioritize genes based on phenotypic relevance.

Which tissue should be used?

We recommend using blood when the genes of interest are expressed in blood, due to the simpler process compared to other tissues. However, we recommend using a globin depletion kit. Skin-derived fibroblasts take longer, but usually offer a higher number of expressed genes. Muscle is recommended to study (neuro)muscular disorders. For other tissues, please contact us.

Which RNA-seq protocol is recommended for RNAvision?

We recommend a poly(A)-enriched RNA-seq protocol to assess mRNA products. Total RNA-seq protocols are also supported but may result in a higher false positive rate in the splicing analysis.  

What is the recommended sequencing depth?

We recommend sequencing at least 50 million read pairs per sample. If globin depletion is not performed or a total RNA-seq protocol is used, aim for double the depth to maintain sensitivity.

How many samples are recommended per analysis run?

We recommend processing at least 8 samples per batch for optimal normalization.

I already have RNA-seq data, how can I check if it’s compatible with RNAvision?

We are happy to review your existing data and assess its suitability for RNAvision. Please contact us to arrange a quick evaluation.

Still have questions?

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