SurvivalGWAS_SV

SurvivalGWAS_SV performs genome-wide association analyses of time-to-event (survival) outcomes using imputed genotype dosages to enable pharmacogenetic identification of genetic markers associated with treatment response.


Key Features:

  • Time-to-event models: Supports Cox proportional hazards and Weibull regression for survival analysis.
  • Genotype dosage model: Uses imputed genotypes under a dosage model for association testing.
  • Covariate modeling: Adjusts for multiple covariates and incorporates SNP–covariate interaction effects.
  • Parallel computing: Compatible with high-performance parallel computing clusters to process large GWAS datasets without memory constraints.
  • Implementation and platforms: Implemented in C# and runs on Linux, Mac OS X, and Windows.

Scientific Applications:

  • Pharmacogenetic GWAS: Association testing of genetic variants with drug response using time-to-event outcomes.
  • Biomarker discovery: Identification of genetic biomarkers associated with patient responses to treatments.
  • Large-scale survival GWAS: Analysis of extensive genomic datasets for time-to-event associations across diverse diseases.
  • Personalized medicine research: Enabling discovery of genetic determinants of treatment outcomes to support individualized therapeutic strategies.

Methodology:

Models time-to-event outcomes using imputed genotype dosages under a dosage model, fitting Cox proportional hazards or Weibull regression with covariate adjustment and SNP–covariate interaction terms; implemented in C# and parallelizable for cluster deployment to avoid memory constraints.

Topics

Details

License:
GPL-3.0
Tool Type:
command-line tool
Operating Systems:
Linux, Windows, Mac
Programming Languages:
C#
Added:
7/21/2018
Last Updated:
12/10/2018

Operations

Data Inputs & Outputs

Sequence analysis

Publications

Syed H, Jorgensen AL, Morris AP. SurvivalGWAS_SV: software for the analysis of genome-wide association studies of imputed genotypes with “time-to-event” outcomes. BMC Bioinformatics. 2017;18(1). doi:10.1186/s12859-017-1683-z. PMID:28525968. PMCID:PMC5438515.

PMID: 28525968
PMCID: PMC5438515
Funding: - Wellcome Trust: WT098017

Documentation