Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs

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...

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Bibliographic Details
Main Authors: Ipsita Agarwal, Zachary L Fuller, Simon R Myers, Molly Przeworski
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2023-01-01
Series:eLife
Subjects:
loss-of-function mutations
early-onset disease
human genetics
natural selection
distribution of fitness effects
X chromosome
Online Access:https://elifesciences.org/articles/83172

Internet

https://elifesciences.org/articles/83172

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