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Genotypes to phenotypes: Lessons from functional variation in the human genome and transcriptome
Complex trait association mapping in humans has successfully identified genetic loci influencing trait variation for hundreds of different phenotypes, including disease. The vast majority of associated loci localize to non-coding regions of the genome, suggesting possible effects on gene regulatory mechanisms. Without a clear understanding of the regulatory code of the human genome, deep characterization of the molecular function(s) of genetic variants in the human genome has become increasingly important for defining that code and for understanding genetic associations to complex traits. Studies of the human transcriptome, its complexity, and its relation to genetic variation in a variety of contexts have proven highly informative for understanding genome function and for suggesting testable hypotheses involving candidate genes for complex traits and the functional mechanisms though which they may act. These approaches are increasingly leading to successful functional characterization of trait-associated variants, in some cases, suggesting possible targets for trait manipulation. Finally, these characterizations are being used to build models predicting variant function, further extending possible applications.
Keywords: genome function, non-coding variants, regulatory mechanisms