Estimate of the mutation rate per nucleotide in humans.

By M. Nachman, S. L. Crowell. Genetics, 2000

1,277 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/54ff4a86d58526c7775af7ae7c9f59d51c9f75be

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Citations in the corpus

Exome sequencing as a tool for Mendelian disease gene discovery (2011, unknown): “2c) , as multiple de novo events occurring within a specific gene (or within a gene family or pathway) is an extremely unlikely event 44 .”
Clonal Evolution in Breast Cancer Revealed by Single Nucleus Genome Sequencing (2014, result): “These data are similar to the error rates reported for normal cells, which are approximately 0.6 mutations per cell division (error rate = 1e-10) 26–28 .”
Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees. (2001, background): “A slightly lower average divergence in X-linked sequences than in autosomal sequences has been noted earlier by Jaruzelska et al. (1999) and Nachman and Crowell (2000a).”
INVITED REVIEW: Using genome scans of DNA polymorphism to infer adaptive population divergence (2005, background): “…human microsatellites (3 × 10–6 – 6 × 10–4; Ellegren 2000) are roughly four orders of magnitude higher than rates for single nucleotide changes (c. 2 × 10–8; Nachman & Crowell 2000), Wiehe’s (1998) theoretical results suggest that surveys of microsatellite variation are most appropriate for…”
Widespread Genomic Signatures of Natural Selection in Hominid Evolution (2009, result): “Our estimate of the deleterious mutation rate at exonic selected sites (Table 1) substantially exceeds the per base mutation rate estimates from other studies [37,38].”
Hearing silence: non-neutral evolution at synonymous sites in mammals (2006, background): “, such that related pseudogenes in different locations also evolve at different rate”
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2020, background): “We expect to see an enrichment of CpG transition compared with non-CpG transversion for this class, due to the underlying difference of SNV mutation rate 28 – 30 .”
The amino-acid mutational spectrum of human genetic disease (2003, background): “We emphasize that the rate of health-damaging nonsynonymous mutations is smaller than the total rate of deleterious human mutations, which is estimated to be larger than one [30,31].”
High-resolution haplotype structure in the human genome (2001, background): “Finally, we note that we initially eliminated SNPs at CpG sites because the higher mutation rate at such site”