SurvivalGWAS_SV: software for the analysis of genome-wide association studies of imputed genotypes with "time-to-event" outcomes

Syed, H, Jorgensen, AL ORCID: 0000-0002-6977-9337 and Morris, AP (2017) SurvivalGWAS_SV: software for the analysis of genome-wide association studies of imputed genotypes with "time-to-event" outcomes. BMC bioinformatics, 18 (1). 265-.

Access the full-text of this item by clicking on the Open Access link.

Official URL: https://bmcbioinformatics.biomedcentral.com/articl...

Abstract

Analysis of genome-wide association studies (GWAS) with "time to event" outcomes have become increasingly popular, predominantly in the context of pharmacogenetics, where the survival endpoint could be death, disease remission or the occurrence of an adverse drug reaction. However, methodology and software that can efficiently handle the scale and complexity of genetic data from GWAS with time to event outcomes has not been extensively developed.SurvivalGWAS_SV is an easy to use software implemented using C# and run on Linux, Mac OS X & Windows operating systems. SurvivalGWAS_SV is able to handle large scale genome-wide data, allowing for imputed genotypes by modelling time to event outcomes under a dosage model. Either a Cox proportional hazards or Weibull regression model is used for analysis. The software can adjust for multiple covariates and incorporate SNP-covariate interaction effects. We introduce a new console application analysis tool for the analysis of GWAS with time to event outcomes. SurvivalGWAS_SV is compatible with high performance parallel computing clusters, thereby allowing efficient and effective analysis of large scale GWAS datasets, without incurring memory issues. With its particular relevance to pharmacogenetic GWAS, SurvivalGWAS_SV will aid in the identification of genetic biomarkers of patient response to treatment, with the ultimate goal of personalising therapeutic intervention for an array of diseases.

Item Type:	Article
Uncontrolled Keywords:	Genome-wide association study, Pharmacogenetics, Time to event, Cox proportional hazards, Weibull, Survival analysis, SNP-covariate interaction
Depositing User:	Symplectic Admin
Date Deposited:	02 Jun 2017 09:55
Last Modified:	19 Jan 2023 07:03
DOI:	10.1186/s12859-017-1683-z
Open Access URL:	http://bmcbioinformatics.biomedcentral.com/article...
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3007797