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...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2013
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3847768/
https://ncbi.nlm.nih.gov/pubmed/23990608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.154971.113
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