Rate, molecular spectrum, and consequences of human mutation

By Michael Lynch. Proceedings of the National Academy of Sciences of the United States of America, 2010

748 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/9546177984079e6b75193e6cc605fd6d4d28d682

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Citations in the corpus

Rare and Common Variants: Twenty arguments (2011, background): “The argument has been made that relaxed selection in modern humans may favour the accumulation of deleterious rare alleles, greatly increasing the prevalence of disease hundreds of generations into the futur”
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2011, neutral): “The transition to transversion ratio was highly skewed (18:2), with eight transitions mapping to hypermutable CpG dinucleotides 14 .”
Rate and molecular spectrum of spontaneous mutations in the bacterium Escherichia coli as determined by whole-genome sequencing (2012, background): “Mutational data from a variety of sources have confirmed that in almost all organisms spontaneous mutations are dominated by G:C > A:T transitions, a bias that tends to drive genomes toward greater A:T content (28).”
Whole Genome Sequencing in Autism Identifies Hotspots for De Novo Germline Mutation (2012, neutral): “Base composition of DNMs detected in this study was similar to the base composition of segregating SNPs and DNMs reported in previous studies by Conrad et al. (2011) and Lynch (2010) (see Extended Experimental Procedures).”
Insights into hominid evolution from the gorilla genome sequence (2012, background): “Direct estimates of the per-generation mutation rate in modern human populations, based on the incidence of disease-causing mutation”
A survey of tools for variant analysis of next-generation genome sequencing data (2013, background): “5 deleterious mutations [149], it might be as well that a de novo mutation is causing the disease.”