SnpTracker

SnpTracker maps and updates reference single nucleotide polymorphism (rs) IDs to their current genomic coordinates for human genetics and genomics research.


Key Features:

  • Unified Tracking: Tracks rsIDs and their corresponding genomic coordinates for large sets of sequence variants simultaneously.
  • Version Management: Extracts and assigns the latest rsID versions and their updated genomic coordinates from input rsIDs.
  • Accuracy and Capacity: Surpasses existing utilities in accuracy and capacity for tracking and unifying rsIDs and genomic coordinates.

Scientific Applications:

  • Post-GWAS Data Integration: Supports genetic data exchange and integration in the post-genome-wide association study (GWAS) era by providing accurate rsID and coordinate mappings.
  • Data Consistency: Ensures identifier consistency across datasets by unifying variant rsIDs.
  • Research Efficiency: Improves data management and integration efficiency for large-scale human genetics and genomics analyses.

Methodology:

Validated using proof-of-principle examples demonstrating accurate tracking and unification of rsIDs and genomic coordinates.

Topics

Details

Tool Type:
command-line tool, web application
Operating Systems:
Linux, Windows, Mac
Programming Languages:
Java
Added:
8/3/2017
Last Updated:
11/25/2024

Operations

Publications

Deng J, Sham PC, Li M. SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs IDs and Genomic Coordinates of Massive Sequence Variants. G3 Genes|Genomes|Genetics. 2016;6(1):205-207. doi:10.1534/g3.115.021832. PMID:26585827. PMCID:PMC4704719.

Documentation

Links