NGFN-PLUS
Central statistical genomics and data management
| Coordinator: | Prof. Dr. Helmut Schäfer (TP 15a) | |
| Institution: | Institute for Medical Biometry and Epidemiology (IMBE), Marburg | |
| Homepage: | www.uni-marburg.de |
Coordinator: PD Dr. André Scherag (TP15b)
Institution: Institute for Medical Informatics, Biometry and Epidemiology (IMIBE), Essen
Homepage: www.imibe.de
The subproject 15 was a cross-sectional project which was responsible for aspects of data management, data analysis and interpretation. It was subdivided into two sub-projects located in Marburg (TP15a) and Essen (TP15b) with different priorities.
TP15a analyzed several genome-wide association analyzes (GWAS) of case-control and family samples with core focus obesity. Moreover, TP15a implemented methods for imputation of markers not present on the GWAS-chips using the 1000 Genomes data. A particular focus of TP15a was the genome-wide analysis of copy number variants (in cooperation with TP15b). A new region was identified on chromosome 11q11 (Jarick et al., 2011) based on a family-based GWAS. Finally, TP15a established methods for identifying biological pathways ("Gene Set Enrichment") in the context of mitochondrial marker analyses (Knoll et al., 2013).
The objectives of TP15b were the coordination of TP15 through the local connection to the Essen subprojects (Hebebrand et al., 2013), as well as the development of innovative approaches for the modeling and analyses of available samples. Examples of this is our work on the influence of genetic variants depending on parental origin of the variant (genomic imprinting; Wermter / Scherag et al, 2008) or analyses of the joint effect of common and rare variants at the same gene locus (synthetic associations; Scherag / Jarick et al, 2010). Moreover TP15b was actively involved in international consortia such as GIANT ("Genetic Investigation of Anthropometric Traits"). As an example, the working group "Extreme" (Berndt et al., 2013) examined the upper and lower 5% of the quantitative characteristics (such as the body mass index), and compared the spectrum of discovered genetic variants with the spectrum analyzing all ~ 250,000 individuals. The work is the first empirical evidence of a substantial overlap between the two polygenic spectra. Nevertheless, eleven new loci have been described, showing that there are common genetic variants which are detectable in extreme subgroups only. The work underlines a previously rather theoretically postulated hypothesis of the TP15b researchers (Pütter et al, 2011; Scherag et al, 2010.). Of the new loci more than half are located in the vicinity of genes with high biological plausibility.
Institution: Institute for Medical Informatics, Biometry and Epidemiology (IMIBE), Essen
Homepage: www.imibe.de
The subproject 15 was a cross-sectional project which was responsible for aspects of data management, data analysis and interpretation. It was subdivided into two sub-projects located in Marburg (TP15a) and Essen (TP15b) with different priorities.
TP15a analyzed several genome-wide association analyzes (GWAS) of case-control and family samples with core focus obesity. Moreover, TP15a implemented methods for imputation of markers not present on the GWAS-chips using the 1000 Genomes data. A particular focus of TP15a was the genome-wide analysis of copy number variants (in cooperation with TP15b). A new region was identified on chromosome 11q11 (Jarick et al., 2011) based on a family-based GWAS. Finally, TP15a established methods for identifying biological pathways ("Gene Set Enrichment") in the context of mitochondrial marker analyses (Knoll et al., 2013).
The objectives of TP15b were the coordination of TP15 through the local connection to the Essen subprojects (Hebebrand et al., 2013), as well as the development of innovative approaches for the modeling and analyses of available samples. Examples of this is our work on the influence of genetic variants depending on parental origin of the variant (genomic imprinting; Wermter / Scherag et al, 2008) or analyses of the joint effect of common and rare variants at the same gene locus (synthetic associations; Scherag / Jarick et al, 2010). Moreover TP15b was actively involved in international consortia such as GIANT ("Genetic Investigation of Anthropometric Traits"). As an example, the working group "Extreme" (Berndt et al., 2013) examined the upper and lower 5% of the quantitative characteristics (such as the body mass index), and compared the spectrum of discovered genetic variants with the spectrum analyzing all ~ 250,000 individuals. The work is the first empirical evidence of a substantial overlap between the two polygenic spectra. Nevertheless, eleven new loci have been described, showing that there are common genetic variants which are detectable in extreme subgroups only. The work underlines a previously rather theoretically postulated hypothesis of the TP15b researchers (Pütter et al, 2011; Scherag et al, 2010.). Of the new loci more than half are located in the vicinity of genes with high biological plausibility.
KTT
MEDIA
CURRENT
NGFN-MEETING-2012
NGFN- MEETING
NGFN1&2
LINKS