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Complexity of the Human Genome

Posted on 13, Jun, 2012 by in

Good summary of Daniel McArthur’s work on loss-of-function variants over at MassGenomics:

The effect of a genetic variant depends on many factors beyond how it impacts protein structure: where the gene is expressed, when it’s expressed, how it interacts with other genes that themselves may harbor variants, etc. […] And let’s not forget the effect of environment. Diet, exercise, exposure to carcinogenes, and other factors may have a far more dramatic effect on whether or not someone gets a particular disease than their constitutional genetic makeup.

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