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Genomic Mutation Tracking and Analysis Platform

A comprehensive bioinformatics platform for cataloging, analyzing, and visualizing genetic mutations across organisms. The platform integrates multiple genomic databases and provides real-time sequence context analysis for mutation research, clinical genomics, and comparative studies.

Core Analytical Features

Genomic Context Visualization

  • Real-time sequence retrieval: Fetches genomic sequences around mutation sites using the Ensembl REST API
  • Color-coded nucleotide display: Visual representation of DNA sequences with mutation highlighting
  • Flanking sequence analysis: Displays ±20 base pairs around each mutation for context analysis
  • Strand-aware positioning: Correctly handles mutations on both forward and reverse strands

Gene-Centric Analysis

  • Gene metadata integration: Automatically retrieves gene information from MyGene.info database
  • Chromosomal mapping: Provides precise genomic coordinates and chromosomal locations
  • Gene schematic visualization: Interactive gene maps showing mutation positions relative to gene structure
  • External database linking: Direct links to UniProt, Ensembl, and other genomic resources

Mutation Classification and Analytics

  • Mutation type distribution: Statistical analysis of mutation types across datasets
  • Temporal tracking: Timeline visualization of mutation discovery and reporting patterns
  • Bulk data handling: CSV import/export functionality for large-scale mutation datasets
  • Cross-species comparative analysis: Tracks mutations across different organisms

External Database Integration and APIs

GeneTrackr integrates with multiple genomic databases and APIs to provide comprehensive mutation analysis capabilities:

Ensembl REST API

  • Purpose: Real-time genomic sequence retrieval and genome annotation
  • Endpoints:
    • https://rest.ensembl.org/sequence/region/human/ - DNA sequence retrieval
    • https://rest.ensembl.org/lookup/symbol/human/ - Gene coordinate lookup
  • Functionality: Fetches DNA sequences around mutation sites, provides gene structural information
  • Data Types: Genomic sequences, gene coordinates, transcript information
  • Documentation: https://rest.ensembl.org/

MyGene.info API

  • Purpose: Comprehensive gene metadata and functional annotation
  • Endpoint: https://mygene.info/v3/query
  • Functionality: Gene symbol resolution, chromosomal mapping, functional summaries, cross-references
  • Data Types: Gene names, chromosomal locations, functional descriptions, external database IDs
  • Documentation: https://docs.mygene.info/

UniProt Database Integration

  • Purpose: Protein-level information and functional domain analysis
  • Access Method: Direct linking to UniProt entries via gene-protein mappings
  • Functionality: Protein sequence analysis, structural domains, post-translational modifications
  • Data Types: Protein sequences, functional domains, pathways, disease associations
  • Website: https://www.uniprot.org/

Additional Database Connections

  • NCBI Gene Database: Accessible through MyGene.info API integration for comprehensive gene information
  • Ensembl Genome Browser: Direct linking for detailed genomic visualization and annotation
  • External Variant Databases: Compatible with VCF and other standard genomic data formats

Data Management and Export Capabilities

Supported Data Formats

  • CSV Import/Export: Standard comma-separated format for spreadsheet compatibility
  • Bulk Import: Large-scale mutation dataset processing
  • Real-time Export: Dynamic data extraction for downstream analysis
  • Cross-platform Compatibility: Compatible with R, Python, MATLAB, and other analysis environments

Data Structure

The platform organizes mutation data with comprehensive metadata including:

  • Gene symbols and organism specifications
  • Mutation classifications and detailed descriptions
  • Genomic coordinates and positional information
  • Temporal tracking and data provenance
  • External database cross-references

Licensing and Availability

This bioinformatics platform is released under the Creative Commons CC0 1.0 Universal license.


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