Complex traits and systems genetics: getting added value from gene expression profiling
The genotype-phenotype relationship is highly complex for most traits. Most of the complexity lies beneath higher-level phenotypes, moving from the architecture of the genome itself to protein function and transitioning through the complex modes of epigenetic, gene expression, and post-transcriptional regulation. Regulation of gene expression is the first stage in a multi-step process toward the production of phenotypes and is arguably the most important component in the genetic basis of phenotypic variation. Transcript abundance sums the effects of various sources of variation including coding and non-coding genetic variation, epigenetics marks, and environmental factors including microorganisms, drugs and chemicals. Major advances in large-scale gene expression profiling methodologies including RNA sequencing technologies have provided the opportunity to interrogate at high resolution multiple levels of variation in gene expression including transcript abundance, splicing, RNA sequence variation and RNA epigenetic marks. In this talk, I will introduce the most recent trends in transcription profiling and statistical genetic approaches integrating gene expression and genetic data, as well as examples from published and ongoing studies on cancer and malaria.
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