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The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

Noncoding sequence contains pathogenic mutations. Yet, compared with mutations in protein-coding sequence, pathogenic regulatory mutations are notoriously difficult to recognize. Most fundamentally, we are not yet adept at recognizing the sequence stretches in the human genome that are most importan...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Petrovski, Slavé, Gussow, Ayal B., Wang, Quanli, Halvorsen, Matt, Han, Yujun, Weir, William H., Allen, Andrew S., Goldstein, David B.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4557908/
https://ncbi.nlm.nih.gov/pubmed/26332131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005492
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