Variation in the mutation rate across mammalian genomes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg3098.pdf
Reference115 articles.
1. Benzer, S. On the topography of the genetic fine structure. Proc. Natl Acad. Sci. USA 47, 403–415 (1961). This is a classic study demonstrating that the mutation rate varies between sites within a gene; it was performed before the birth of DNA sequencing.
2. Greenman, C., Wooster, R., Futreal, P. A., Stratton, M. R. & Easton, D. F. Statistical analysis of pathogenicity of somatic mutations in cancer. Genetics 173, 2187–2198 (2006).
3. Haag-Liautard, C. et al. Direct estimation of per nucleotide and genomic deleterious mutation rates in Drosophila. Nature 445, 82–85 (2007).
4. Conrad, D. F. et al. Variation in genome-wide mutation rates within and between human families. Nature Genet. 43, 712–714 (2011).
5. Gojobori, T., Li, W.-H. & Graur, D. Patterns of nucleotide substitution in pseudogenes and functional genes. J. Mol. Evol. 18, 360–369 (1982).
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