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Human genomics

Relationships between cis-regulatory and coding variants

Nature Reviews Genetics volume 12, page 741 (2011)Cite this article

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Analysis of data from the human 1000 Genomes Project has revealed that common cis-regulatory variants can modify the distribution of rare coding variants. When a regulatory single-nucleotide variant (SNV) increases expression of a gene, there tend to be lower numbers of coding variants in that gene than would be predicted from the action of purifying selection. Interestingly, this pattern was not seen for disease-associated regulatory variants. This work has implications for understanding the function of genetic variants and how the spectrum of variation has arisen.

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ORIGINAL RESEARCH PAPER

  1. Lappalainen, T. et al. Epistatic selection between coding and regulatory variation in human evolution and disease. Am. J. Hum. Genet. 89, 459–463 (2011)

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  1. Mary Muers
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Muers, M. Relationships between cis-regulatory and coding variants. Nat Rev Genet 12, 741 (2011). https://doi.org/10.1038/nrg3101

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