Final Report Summary - STATGNOFGENOMEWIDEAS (Development of methods for genome-wide association studies)
During the two years period of Marie Curie intra-european fellowship (IEF), Reedik Magi has successfully finished all objectives of the project. More than ten publications have already been published and several more manuscripts have been prepared. The applicant in the first author of three papers describing the methodology of meta-analysis of genetic association analysis as well as genetic rare-variant analysis.
The main objectives described in the Marie-Curie IEF work plan were: (1) development of new methods for genetic association analysis; (2) applying these methods to the analysis of available datasets; (3) and validating results using data from the Estonian genome center.
During the fellowship, two software packages were developed. For the meta-analysis of genome-wide association analysis software tool GWAMA (genome-wide association meta analysis http://www.well.ox.ac.uk/GWAMA/(s’ouvre dans une nouvelle fenêtre)) was created. The application note describing the software was published in May 2010 and has been cited 18 times by now (Magi et al. 2010a). GWAMA software was afterwards updated with novel sex-specific analysis method (Magi & Morris 2010), which will be used for analysis in several international consortia (Diagram, MAGIC). Another software package (Granvil: gene- or region-based ananlysis of variants of intermediate and low frequency http://www.well.ox.ac.uk/Granvil/ ) has been developed for uncommon and rare variant analysis using mutational load method (Magi et al. 2010b) and is going to be used for analysis in Engage consortium. Application note is currently being written describing the software.
The applicant is one of the leading authors in several association analysis projects, which are currently in final stages.
As the final result of this research project we hope to provide novel methods for analysis of genetic data as well as software tools, which implement them. All these tools will be publically available for research community. Also, using these tools we have been able to identify novel genetic loci contributing to several diseases and phenotypes of public interest.
The main objectives described in the Marie-Curie IEF work plan were: (1) development of new methods for genetic association analysis; (2) applying these methods to the analysis of available datasets; (3) and validating results using data from the Estonian genome center.
During the fellowship, two software packages were developed. For the meta-analysis of genome-wide association analysis software tool GWAMA (genome-wide association meta analysis http://www.well.ox.ac.uk/GWAMA/(s’ouvre dans une nouvelle fenêtre)) was created. The application note describing the software was published in May 2010 and has been cited 18 times by now (Magi et al. 2010a). GWAMA software was afterwards updated with novel sex-specific analysis method (Magi & Morris 2010), which will be used for analysis in several international consortia (Diagram, MAGIC). Another software package (Granvil: gene- or region-based ananlysis of variants of intermediate and low frequency http://www.well.ox.ac.uk/Granvil/ ) has been developed for uncommon and rare variant analysis using mutational load method (Magi et al. 2010b) and is going to be used for analysis in Engage consortium. Application note is currently being written describing the software.
The applicant is one of the leading authors in several association analysis projects, which are currently in final stages.
As the final result of this research project we hope to provide novel methods for analysis of genetic data as well as software tools, which implement them. All these tools will be publically available for research community. Also, using these tools we have been able to identify novel genetic loci contributing to several diseases and phenotypes of public interest.