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Predict the functional role of any gene

Researchers from Germany, Belgium, and the Netherlands have recently presented a promising new approach: The human variation (huva) approach.

The key point: human variation in gene expression can be used to predict the functional role of any gene! The approach makes use of multi-layered population-level data to draw conclusions about gene function and the relationships between phenotypes and expression. Huva derives two experimental groups with low or high expression of the gene of interest, allowing comparison of transcriptional profiles.

We demonstrate that this approach robustly identifies the phenotypic relevance of a GOI allowing the stratification of genes according to biological functions.
Bonaguro et. al, 2022

Best of all, they have generalized the concept to nearly 16,000 genes in the human transcriptome! Using huva analyses, they predicted that monocytes are the most important cell type in the pathophysiology of STAT1 mutations, and the whole thing was proven in a clinical cohort.


And there are a lot of advantages:

  • immediate data – the program calculates results of 2400 transcriptomic profiles in a few seconds

  • the easy of use

  • ensured easy access to the huva framework without restrictive hardware requirements

  • high flexibility: for example, users have access to all datasets already included in huva for comparative analysis

  • major plus: this allows you to extend the approach to new datasets even without great programming knowledge

You can find the publication here.