miRVaS

miRVaS predicts the impact of genetic variants on microRNA (miRNA) structure and function to assess consequences for miRNA expression and targeting.

Key Features:

• Variant annotation: Annotates variant location relative to miRNA hairpin regions including seed region, mature miRNA sequence, loop, hairpin arm, and flanking areas.
• Structural change prediction: Predicts structural changes in the miRNA hairpin induced by genetic variants and identifies affected regions.
• Conservation score calculation: Calculates a conservation score for each predicted structural change to indicate evolutionary support for the prediction.
• Output formats: Produces results in tab-separated values and HTML formats for downstream analysis and comparison.
• Visual comparison: Generates separate images of wild-type and variant predicted structures for visual comparison.

Scientific Applications:

• miRNA functional impact assessment: Assess how single-nucleotide variants and other genetic changes within or near miRNA genes alter miRNA structure and potentially affect expression and target recognition.
• Disease mechanism investigation: Investigate variants in miRNA genes as potential contributors to disease-related regulatory dysfunctions mediated by miRNAs.
• Large-scale variant screening: Screen and prioritize large sets of genetic variants for their potential functional effects on miRNA-related pathways in genomic studies.

Methodology:

Annotates variants by location within the miRNA hairpin, predicts variant-induced structural changes, calculates a conservation score for each predicted change, and evaluated approaches on a set of functionally validated genetic variants.