Buffering of gene dosage response curves for human complex traits.

Abstract excerpt

The genome-wide burdens of deletions, loss-of-function mutations, and duplications correlate with many traits. Curiously, for most of these traits, variants that decrease expression have the same genome-wide average direction of effect as variants that increase expression. This seemingly contradicts the intuition that for individual genes, reducing expression should have the opposite effect on a phenotype as...

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