Quantifying harmful mutations in human populations

European Journal of Human Genetics

Volumn 20, Issue 12, 2012, Pages 1320-1322

  Subramanian, Sankar ^a  

^a GRIFFITH UNIVERSITY   (Australia)

Author keywords

deleterious mutations; disease associated mutations; genome wide association; human evolution; rare and common variants; SNP and population genetics theory

Indexed keywords

ARTICLE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; HUMAN; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

DATABASES, NUCLEIC ACID; GENE FREQUENCY; HUMANS; MUTATION; OPEN READING FRAMES; POLYMORPHISM, SINGLE NUCLEOTIDE; POPULATION;

EID: 84869216278     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.68     Document Type: Article

References (14)

1. Kimura M: The Neutral Theory of Molecular Evolution. Cambridge: Cambridge University press, 1983.
2. 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061-1073.
3. Cargill M, Altshuler D, Ireland J et al: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999; 22: 231-238. (Pubitemid 29297248)
4. Frazer KA, Ballinger DG, Cox DR et al: A second generation human haplotype map of over 3.1 million SNPs. Nature 2007; 449: 851-861. (Pubitemid 47598626)
5. Zhu Q, Ge D, Maia JM et al: A genome-wide comparison of the functional properties of rare and common genetic variants in humans. Am J Hum Genet 2011; 88: 458-468.
6. McDonald JH, Kreitman M: Adaptive protein evolution at the Adh locus in Drosophila. Nature 1991; 351: 652-654. (Pubitemid 21896661)
7. Kryazhimskiy S, Plotkin JB: The population genetics of dN/dS. Plos Genet 2008; 4: e1000304.
8. Subramanian S: High proportions of deleterious polymorphisms in constrained human genes. Mol Biol Evol 2011; 28: 49-52.
9. Mikkelsen TS, Hillier LW, Eichler EE et al: Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 2005; 437: 69-87.
10. Adzhubei IA, Schmidt S, Peshkin L et al: A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
11. Rand DM, Kann LM: Excess amino acid polymorphism in mitochondrial DNA: contrasts among genes from Drosophila, mice, and humans. Mol Biol Evol 1996; 13: 735-748. (Pubitemid 26240078)
12. Pritchard JK: Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69: 124-137. (Pubitemid 32614025)
13. Reich DE, Lander ES: On the allelic spectrum of human disease. Trends Genet 2001; 17: 502-510. (Pubitemid 32763048)
14. MacArthur DG, Tyler-Smith C: Loss-of-function variants in the genomes of healthy humans. Hum Mol Genet 2010; 19: R125-R130.