Synthesis-View

Synthesis-View visualizes genotype-phenotype association results from genome-wide association studies (GWAS) and related genetic analyses using stacked multi-track graphical displays to integrate SNP-level metrics and study-level summaries.


Key Features:

  • Multi-track Visualization: Displays stacked tracks representing SNP genomic locations, study-specific presence of SNPs, and study-level metrics to present layered genetic information.
  • Integration of Diverse Data Types: Integrates p-values, allele frequencies, sample sizes, effect sizes, direction of effects, and summary phenotype information at the SNP and phenotype level.
  • Support for Complex Studies: Accommodates data from multiple sites, studies, populations, and consortia to enable comparison across cohorts and facilitate meta-analysis visualization.
  • Innovative Data Presentation: Combines multiple pieces of information typical of genetic association studies into cohesive visual outputs to aid interpretation of SNP–phenotype relationships.

Scientific Applications:

  • Visualization of GWAS results: Generates visual summaries of SNP–phenotype associations from GWAS and related genetic analyses.
  • Reporting correlated phenotype outcomes: Summarizes and displays study outcomes that involve multiple correlated phenotypic measurements across studies.
  • Meta-analysis visualization: Supports visualization of aggregated and comparative results from meta-analyses across diverse populations and ethnic groups.

Methodology:

Processes input genetic association data (SNP genomic locations, p-values, allele frequencies, sample sizes, effect sizes, and direction of effects) into stacked multi-track visual representations and aggregates data across studies and populations for comparative and meta-analysis displays.

Topics

Details

Tool Type:
desktop application
Operating Systems:
Linux, Windows, Mac
Programming Languages:
Ruby
Added:
12/18/2017
Last Updated:
12/10/2018

Operations

Publications

Pendergrass SA, Dudek SM, Crawford DC, Ritchie MD. Synthesis-View: visualization and interpretation of SNP association results for multi-cohort, multi-phenotype data and meta-analysis. BioData Mining. 2010;3(1). doi:10.1186/1756-0381-3-10. PMID:21162740. PMCID:PMC3012023.

Documentation

Links