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The influence of genomic context on mutation patterns in the human genome inferred from rare variants
Understanding patterns of spontaneous mutations is of fundamental interest in studies of human genome evolution and genetic disease. Here, we used extremely rare variants in humans to model the molecular spectrum of single-nucleotide mutations. Compared to common variants in humans and human–chimpan...
Autores principales: | Schaibley, Valerie M., Zawistowski, Matthew, Wegmann, Daniel, Ehm, Margaret G., Nelson, Matthew R., St. Jean, Pamela L., Abecasis, Gonçalo R., Novembre, John, Zöllner, Sebastian, Li, Jun Z. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847768/ https://www.ncbi.nlm.nih.gov/pubmed/23990608 http://dx.doi.org/10.1101/gr.154971.113 |
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