Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs
Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are enriched in 'mutation intolerant' genes. We show how such observations can be interpreted in light of a model of mutation-selection balance and use the model to relate the pathogenic consequences of LOF mu...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
eLife Sciences Publications Ltd
2023-01-01
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Series: | eLife |
Subjects: | |
Online Access: | https://elifesciences.org/articles/83172 |