The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics.

PloS One
Joseph E PowellGrant W Montgomery

Abstract

There is growing evidence that genetic risk factors for common disease are caused by hereditary changes of gene regulation acting in complex pathways. Clearly understanding the molecular genetic relationships between genetic control of gene expression and its effect on complex diseases is essential. Here we describe the Brisbane Systems Genetics Study (BSGS), a family-based study that will be used to elucidate the genetic factors affecting gene expression and the role of gene regulation in mediating endophenotypes and complex diseases.BSGS comprises of a total of 962 individuals from 314 families, for which we have high-density genotype, gene expression and phenotypic data. Families consist of combinations of both monozygotic and dizygotic twin pairs, their siblings, and, for 72 families, both parents. A significant advantage of the inclusion of parents is improved power to disentangle environmental, additive genetic and non-additive genetic effects of gene expression and measured phenotypes. Furthermore, it allows for the estimation of parent-of-origin effects, something that has not previously been systematically investigated in human genetical genomics studies. Measured phenotypes available within the BSGS include blood phen...Continue Reading

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Jun 5, 2014·BMC Medical Genomics·Marna McKenzieJoseph E Powell
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Methods Mentioned

BETA
chip
chips
genotyping

Software Mentioned

MERLIN
Illumina
BeadStudio GenCall
GenomeStudio

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