LDassoc

LDassoc provides interactive visualization and integrates linkage disequilibrium, regulatory annotation, and candidate gene information to aid interpretation and prioritization of genome-wide association study (GWAS) results.


Key Features:

  • Interactive Visualization: Produces dynamic plots and sortable tables for detailed examination of GWAS signals.
  • Data Integration: Integrates linkage disequilibrium (LD) patterns, variant regulatory potential, and potential target genes.
  • Population-Specific Analysis: Incorporates population-specific LD patterns to refine association signals across diverse populations.
  • External Database Links: Links variants to external resources including the UCSC Genome Browser, dbSNP, and RegulomeDB.
  • Variant Prioritization: Combines multiple data sources to prioritize variants for downstream functional studies.

Scientific Applications:

  • Association Interpretation: Identification of significant genetic associations and assessment of their potential biological functions.
  • Population Genetics: Enhanced analysis of population-specific genetic variation through population-specific LD evaluation.
  • Functional Prioritization: Prioritization of candidate variants for follow-up functional assays and experimental validation.

Methodology:

Integrates LD patterns (including population-specific LD), variant regulatory annotations, and candidate target gene data, generates interactive plots and sortable tables, and links variants to UCSC Genome Browser, dbSNP, and RegulomeDB.

Topics

Details

License:
Unlicense
Maturity:
Mature
Cost:
Free of charge
Tool Type:
api, web application
Operating Systems:
Linux, Windows, Mac
Programming Languages:
Python
Added:
7/7/2019
Last Updated:
11/24/2024

Operations

Publications

Machiela MJ, Chanock SJ. LDassoc: an online tool for interactively exploring genome-wide association study results and prioritizing variants for functional investigation. Bioinformatics. 2017;34(5):887-889. doi:10.1093/bioinformatics/btx561. PMID:28968746. PMCID:PMC6030966.

Links