MitoVisualize

MitoVisualize visualizes and annotates human mitochondrial DNA (mtDNA) variants with emphasis on transfer RNA (tRNA) and ribosomal RNA (rRNA) secondary structures to support interpretation of variant effects.

Key Features:

• Visualization of Variants: Visualizes the positions and effects of variants within mitochondrial tRNA and rRNA secondary structures and integrates curated variant annotations into the displays.
• Comprehensive RNA Annotation: Displays positions across RNA structures annotated for disease-associated variants and post-transcriptional modification sites.
• Circular mtDNA Mapping: Maps bases, genes, and regions on a circular mitochondrial genome representation and annotates structural events such as large deletions.

Scientific Applications:

• Variant Interpretation: Supports interpretation of mtDNA variants by locating them within tRNA and rRNA secondary structures and associated annotations.
• Mitochondrial Disease Research: Aids studies investigating the genetic basis of mitochondrial diseases by identifying disease-associated variant positions and large deletions.
• Functional Studies: Enables exploration of functional implications of mtDNA variations, including effects at post-transcriptional modification sites.
• Clinical Annotation: Supports clinical annotation and reporting of mitochondrial genetic variants.

Methodology:

Leverages curated variant annotations to annotate positions on RNA secondary structures and circular mitochondrial genome maps.