The role of mutation rate variation and genetic diversity in the architecture of human disease

• Published in: PloS one Vol. 9; no. 2; p. e90166
• Main Authors: Eyre-Walker, Ying Chen, Eyre-Walker, Adam
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 27.02.2014; Public Library of Science (PLoS)
• Subjects: Analysis of Variance; Animals; Architecture; Biology; Chimpanzees; Consortia; Deoxyribonucleic acid; Disease; Divergence; DNA; Gene expression; Genes; Genetic aspects; Genetic Association Studies; Genetic diversity; Genetic Predisposition to Disease; Genetic Variation; Genomes; Genomics; Humans; Life sciences; Loci; Medical research; Mutation; Mutation Rate; Mutation rates; Polymorphism, Single Nucleotide; Population; Predictions; Variation

We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease. We predict that the mutation rate and its genetic diversity should be higher in genes associated with disease, unless all genes that could...