메뉴 건너뛰기




Volumn 46, Issue 3, 2014, Pages 220-224

The deleterious mutation load is insensitive to recent population history

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DELETION MUTANT; DEMOGRAPHY; EXOME; GENE FREQUENCY; GENE SEQUENCE; GENETIC LOAD; GENETIC MODEL; GENETIC VARIABILITY; GENOTYPE; HERITABILITY; HUMAN; POPULATION GENETICS; PREDICTION; PRIORITY JOURNAL;

EID: 84895867277     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2896     Document Type: Article
Times cited : (214)

References (30)
  • 1
    • 78650037203 scopus 로고    scopus 로고
    • Deep resequencing reveals excess rare recent variants consistent with explosive population growth
    • Coventry, A. et al. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat. Commun. 1, 131 (2010
    • (2010) Nat. Commun , vol.1 , pp. 131
    • Coventry, A.1
  • 2
    • 80052825195 scopus 로고    scopus 로고
    • The functional spectrum of low-frequency coding variation
    • Marth, G.T. et al. The functional spectrum of low-frequency coding variation. Genome Biol. 12, R84 (2011
    • (2011) Genome Biol , vol.12
    • Marth, G.T.1
  • 3
    • 84860817223 scopus 로고    scopus 로고
    • Recent explosive human population growth has resulted in an excess of rare genetic variants
    • Keinan, A. & Clark, A.G. Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 336, 740-743 (2012
    • (2012) Science , vol.336 , pp. 740-743
    • Keinan, A.1    Clark, A.G.2
  • 4
    • 84863541347 scopus 로고    scopus 로고
    • An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
    • Nelson, M.R. et al. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 337, 100-104 (2012
    • (2012) Science , vol.337 , pp. 100-104
    • Nelson, M.R.1
  • 5
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen, J.A. et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337, 64-69 (2012
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1
  • 6
    • 84872143942 scopus 로고    scopus 로고
    • Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
    • Fu, W. et al. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493, 216-220 (2013
    • (2013) Nature , vol.493 , pp. 216-220
    • Fu, W.1
  • 7
    • 34748819978 scopus 로고    scopus 로고
    • Measurement of the human allele frequency spectrum demonstrates greater genetic drift in east asians than in europeans
    • Keinan, A., Mullikin, J.C., Patterson, N. & Reich, D. Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans. Nat. Genet. 39, 1251-1255 (2007
    • (2007) Nat. Genet , vol.39 , pp. 1251-1255
    • Keinan, A.1    Mullikin, J.C.2    Patterson, N.3    Reich, D.4
  • 8
    • 0033870688 scopus 로고    scopus 로고
    • When did the human population size start increasing
    • Wall, J.D & Przeworski, M. When did the human population size start increasing? Genetics 155, 1865-1874 (2000
    • (2000) Genetics , vol.155 , pp. 1865-1874
    • Wall, J.D.1    Przeworski, M.2
  • 9
    • 29444451610 scopus 로고    scopus 로고
    • Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes
    • Voight, B.F. et al. Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. Proc. Natl. Acad. Sci. USA 102, 18508-18513 (2005
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 18508-18513
    • Voight, B.F.1
  • 10
    • 73449149044 scopus 로고    scopus 로고
    • Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data
    • Gutenkunst, R.N., Hernandez, R.D., Williamson, S.H. & Bustamante, C.D. Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet. 5, e1000695 (2009
    • (2009) PLoS Genet , vol.5
    • Gutenkunst, R.N.1    Hernandez, R.D.2    Williamson, S.H.3    Bustamante, C.D.4
  • 11
    • 39749139577 scopus 로고    scopus 로고
    • Proportionally more deleterious genetic variation in european than in african populations
    • Lohmueller, K.E. et al. Proportionally more deleterious genetic variation in European than in African populations. Nature 451, 994-997 (2008
    • (2008) Nature , vol.451 , pp. 994-997
    • Lohmueller, K.E.1
  • 12
    • 84863544493 scopus 로고    scopus 로고
    • Human genetic variation, shared and private
    • Casals, F. & Bertranpetit, J. Human genetic variation, shared and private. Science 337, 39-40 (2012
    • (2012) Science , vol.337 , pp. 39-40
    • Casals, F.1    Bertranpetit, J.2
  • 13
    • 0034969437 scopus 로고    scopus 로고
    • Are rare variants responsible for susceptibility to complex diseases
    • Pritchard, J.K. Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet. 69, 124-137 (2001
    • (2001) Am J. Hum. Genet , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 14
    • 76549092570 scopus 로고    scopus 로고
    • Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies
    • Eyre-Walker, A. Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies. Proc. Natl. Acad. Sci. USA 107, 1752-1756 (2010
    • (2010) Proc. Natl. Acad. Sci. USA , vol.107 , pp. 1752-1756
    • Eyre-Walker, A.1
  • 15
    • 84855925920 scopus 로고    scopus 로고
    • Rare and common variants: Twenty arguments
    • Gibson, G. Rare and common variants: Twenty arguments. Nat. Rev. Genet. 13, 135-145 (2011
    • (2011) Nat. Rev. Genet , vol.13 , pp. 135-145
    • Gibson, G.1
  • 16
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio, T.A. et al. Finding the missing heritability of complex diseases. Nature 461, 747-753 (2009
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1
  • 17
    • 27544497650 scopus 로고    scopus 로고
    • Calibrating a coalescent simulation of human genome sequence variation
    • Schaffner, S.F. et al. Calibrating a coalescent simulation of human genome sequence variation. Genome Res. 15, 1576-1583 (2005
    • (2005) Genome Res , vol.15 , pp. 1576-1583
    • Schaffner, S.F.1
  • 19
    • 35348923543 scopus 로고    scopus 로고
    • Deleterious mutations can surf to high densities on the wave front of an expanding population
    • Travis, J.M. et al. Deleterious mutations can surf to high densities on the wave front of an expanding population. Mol. Biol. Evol. 24, 2334-2343 (2007
    • (2007) Mol. Biol. Evol , vol.24 , pp. 2334-2343
    • Travis, J.M.1
  • 20
    • 0028995999 scopus 로고
    • Mutational meltdowns in sexual populations
    • Lynch, M., Conery, J. & Burger, R. Mutational meltdowns in sexual populations. Evolution 49, 1067-1080 (1995
    • (1995) Evolution , vol.49 , pp. 1067-1080
    • Lynch, M.1    Conery, J.2    Burger, R.3
  • 21
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • The 1000 Genomes Project Consortium
    • The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 22
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei, I.A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010
    • (2010) Nat. Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1
  • 23
    • 84874770275 scopus 로고    scopus 로고
    • Properties and modeling of GWAS when complex disease risk is due to non-complementing, deleterious mutations in genes of large effect
    • Thornton, K.R., Foran, A.J. & Long, A.D. Properties and modeling of GWAS when complex disease risk is due to non-complementing, deleterious mutations in genes of large effect. PLoS Genet. 9, e1003258 (2013
    • (2013) PLoS Genet , vol.9
    • Thornton, K.R.1    Foran, A.J.2    Long, A.D.3
  • 24
    • 31344442812 scopus 로고    scopus 로고
    • Theoretical models of selection and mutation on quantitative traits
    • Johnson, T. & Barton, N. Theoretical models of selection and mutation on quantitative traits. Phil. Trans. R. Soc. Lond. B 360, 1411-1425 (2005
    • (2005) Phil. Trans. R. Soc. Lond , vol.B360 , pp. 1411-1425
    • Johnson, T.1    Barton, N.2
  • 26
    • 67149096366 scopus 로고    scopus 로고
    • Widespread genomic signatures of natural selection in hominid evolution
    • McVicker, G., Gordon, D., Davis, C. & Green, P. Widespread genomic signatures of natural selection in hominid evolution. PLoS Genet. 5, e1000471 (2009
    • (2009) PLoS Genet , vol.5
    • McVicker, G.1    Gordon, D.2    Davis, C.3    Green, P.4
  • 27
    • 77956534324 scopus 로고    scopus 로고
    • Annovar: Functional annotation of genetic variants from high-Throughput sequencing data
    • Wang, K., Li, M. & Hakonarson, H. ANNOVAR: Functional annotation of genetic variants from high-Throughput sequencing data. Nucleic Acids Res. 38, e164 (2010
    • (2010) Nucleic Acids Res , vol.38
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 28
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar, P., Henikoff, S. & Ng, P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4, 1073-1081 (2009
    • (2009) Nat. Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 29
    • 69749122314 scopus 로고    scopus 로고
    • Identification of deleterious mutations within three human genomes
    • Chun, S. & Fay, J.C. Identification of deleterious mutations within three human genomes. Genome Res. 19, 1553-1561 (2009
    • (2009) Genome Res , vol.19 , pp. 1553-1561
    • Chun, S.1    Fay, J.C.2
  • 30
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz, J.M., Rödelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575-576 (2010.
    • (2010) Nat. Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rödelsperger, C.2    Schuelke, M.3    Seelow, D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.