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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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2013
Materias:
Research
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

Internet

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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