De novo mutations in human genetic disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg3241.pdf
Reference107 articles.
1. Raychaudhuri, S. Mapping rare and common causal alleles for complex human diseases. Cell 147, 57–69 (2011).
2. Conrad, D. F. et al. Variation in genome-wide mutation rates within and between human families. Nature Genet. 43, 712–714 (2011).
3. Vogel, F. & Rathenberg, R. Spontaneous mutation in man. Adv. Hum. Genet. 5, 223–318 (1975).
4. Kondrashov, A. S. Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum. Mutat. 21, 12–27 (2002). These authors accurately estimate the de novo mutation rate of SNVs long before the availability of whole-genome and whole-exome sequencing technologies.
5. Crow, J. F. The origins, patterns and implications of human spontaneous mutation. Nature Rev. Genet. 1, 40–47 (2000).
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