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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Detalles Bibliográficos
Autores principales: Agarwal, Ipsita, Fuller, Zachary L, Myers, Simon R, Przeworski, Molly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2023
Materias:
Evolutionary Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9937649/
https://www.ncbi.nlm.nih.gov/pubmed/36648429
http://dx.doi.org/10.7554/eLife.83172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9937649/
https://www.ncbi.nlm.nih.gov/pubmed/36648429
http://dx.doi.org/10.7554/eLife.83172

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