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.