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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Detalles Bibliográficos
Autores principales: Petrovski, Slavé, Gussow, Ayal B., Wang, Quanli, Halvorsen, Matt, Han, Yujun, Weir, William H., Allen, Andrew S., Goldstein, David B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557908/
https://www.ncbi.nlm.nih.gov/pubmed/26332131
http://dx.doi.org/10.1371/journal.pgen.1005492

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