Article
Buffering and non-monotonic behavior of gene dosage response curves for human complex traits
2024-11-11
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 increa...
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Identifiers and source
- Literature Corpus work
- e97d57ac-04d2-53ed-8842-d5f8990425a6
- DOI
- 10.1101/2024.11.11.24317065