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Volumn 25, Issue 4, 2017, Pages 477-484

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN;

EID: 85011296312     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.205     Document Type: Article
Times cited : (51)

References (37)
  • 1
    • 84905460411 scopus 로고    scopus 로고
    • Distribution and medical impact of loss-offunction variants in the Finnish founder population
    • Lim ET, Wurtz P, Havulinna AS et al: Distribution and medical impact of loss-offunction variants in the Finnish founder population. PLoS Genet 2014; 10: e1004494.
    • (2014) PLoS Genet , vol.10 , pp. e1004494
    • Lim, E.T.1    Wurtz, P.2    Havulinna, A.S.3
  • 2
    • 84945370533 scopus 로고    scopus 로고
    • Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers
    • Sidore C, Busonero F, Maschio A et al: Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. Nat Genet 2015; 47: 1272-1281.
    • (2015) Nat Genet , vol.47 , pp. 1272-1281
    • Sidore, C.1    Busonero, F.2    Maschio, A.3
  • 3
    • 84929132687 scopus 로고    scopus 로고
    • Large-scale whole-genome sequencing of the Icelandic population
    • Gudbjartsson DF, Helgason H, Gudjonsson SA et al: Large-scale whole-genome sequencing of the Icelandic population. Nat Genet 2015; 47: 435-444.
    • (2015) Nat Genet , vol.47 , pp. 435-444
    • Gudbjartsson, D.F.1    Helgason, H.2    Gudjonsson, S.A.3
  • 4
    • 84884681237 scopus 로고    scopus 로고
    • Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans
    • Casals F, Hodgkinson A, Hussin J et al: Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. PLoS Genet 2013; 9: e1003815.
    • (2013) PLoS Genet , vol.9 , pp. e1003815
    • Casals, F.1    Hodgkinson, A.2    Hussin, J.3
  • 5
    • 84879411643 scopus 로고    scopus 로고
    • Sequencing studies in human genetics: Design and interpretation
    • Goldstein DB, Allen A, Keebler J et al: Sequencing studies in human genetics: design and interpretation. Nat Rev Genet 2013; 14: 460-470.
    • (2013) Nat Rev Genet , vol.14 , pp. 460-470
    • Goldstein, D.B.1    Allen, A.2    Keebler, J.3
  • 6
    • 34147116715 scopus 로고    scopus 로고
    • Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
    • Kryukov GV, Pennacchio LA, Sunyaev SR: Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 2007; 80: 727-739.
    • (2007) Am J Hum Genet , vol.80 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 7
    • 0034969437 scopus 로고    scopus 로고
    • Are rare variants responsible for susceptibility to complex diseases?
    • Pritchard JK: Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69: 124-137.
    • (2001) Am J Hum Genet , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 8
    • 57649098768 scopus 로고    scopus 로고
    • The genome-wide patterns of variation expose significant substructure in a founder population
    • Jakkula E, Rehnstrom K, Varilo T et al: The genome-wide patterns of variation expose significant substructure in a founder population. Am J Hum Genet 2008; 83: 787-794.
    • (2008) Am J Hum Genet , vol.83 , pp. 787-794
    • Jakkula, E.1    Rehnstrom, K.2    Varilo, T.3
  • 9
    • 0031971898 scopus 로고    scopus 로고
    • Dual origins of Finns revealed by y chromosome haplotype variation
    • Kittles RA, Perola M, Peltonen L et al: Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet 1998; 62: 1171-1179.
    • (1998) Am J Hum Genet , vol.62 , pp. 1171-1179
    • Kittles, R.A.1    Perola, M.2    Peltonen, L.3
  • 10
    • 0033869708 scopus 로고    scopus 로고
    • Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo
    • Varilo T, Laan M, Hovatta I, Wiebe V, Terwilliger JD, Peltonen L: Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo. Eur J Hum Genet 2000; 8: 604-612.
    • (2000) Eur J Hum Genet , vol.8 , pp. 604-612
    • Varilo, T.1    Laan, M.2    Hovatta, I.3    Wiebe, V.4    Terwilliger, J.D.5    Peltonen, L.6
  • 11
    • 33646375453 scopus 로고    scopus 로고
    • Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies
    • Service S, DeYoung J, Karayiorgou M et al: Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet 2006; 38: 556-560.
    • (2006) Nat Genet , vol.38 , pp. 556-560
    • Service, S.1    DeYoung, J.2    Karayiorgou, M.3
  • 12
    • 0032869123 scopus 로고    scopus 로고
    • Molecular genetics of the Finnish disease heritage
    • Peltonen L, Jalanko A, Varilo T: Molecular genetics of the Finnish disease heritage. Hum Mol Genet 1999; 8: 1913-1923.
    • (1999) Hum Mol Genet , vol.8 , pp. 1913-1923
    • Peltonen, L.1    Jalanko, A.2    Varilo, T.3
  • 13
    • 84883438921 scopus 로고    scopus 로고
    • Deletion of TOP3beta, a component of FMRPcontaining mRNPs, contributes to neurodevelopmental disorders
    • Stoll G, Pietilainen OP, Linder B et al: Deletion of TOP3beta, a component of FMRPcontaining mRNPs, contributes to neurodevelopmental disorders. Nat Neurosci 2013; 16: 1228-1237.
    • (2013) Nat Neurosci , vol.16 , pp. 1228-1237
    • Stoll, G.1    Pietilainen, O.P.2    Linder, B.3
  • 14
    • 77952721703 scopus 로고    scopus 로고
    • Thirty-five-year trends in cardiovascular risk factors in Finland
    • Vartiainen E, Laatikainen T, Peltonen M et al: Thirty-five-year trends in cardiovascular risk factors in Finland. Int J Epidemiol 2010; 39: 504-518.
    • (2010) Int J Epidemiol , vol.39 , pp. 504-518
    • Vartiainen, E.1    Laatikainen, T.2    Peltonen, M.3
  • 15
    • 84983479616 scopus 로고    scopus 로고
    • A reference panel of 64,976 haplotypes for genotype imputation
    • McCarthy S, Das S, Kretzschmar W et al: A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet 2016; 48: 1279-1283.
    • (2016) Nat Genet , vol.48 , pp. 1279-1283
    • McCarthy, S.1    Das, S.2    Kretzschmar, W.3
  • 16
    • 84976319226 scopus 로고    scopus 로고
    • Haplotype estimation for biobank-scale data sets
    • O'Connell J, Sharp K, Shrine N et al: Haplotype estimation for biobank-scale data sets. Nat Genet 2016; 48: 817-820.
    • (2016) Nat Genet , vol.48 , pp. 817-820
    • O'Connell, J.1    Sharp, K.2    Shrine, N.3
  • 17
    • 0036079158 scopus 로고    scopus 로고
    • The human genome browser at UCSC
    • Kent WJ, Sugnet CW, Furey TS et al: The human genome browser at UCSC. Genome Res 2002; 12: 996-1006.
    • (2002) Genome Res , vol.12 , pp. 996-1006
    • Kent, W.J.1    Sugnet, C.W.2    Furey, T.S.3
  • 18
    • 84865760395 scopus 로고    scopus 로고
    • GENCODE: The reference human genome annotation for the ENCODE Project
    • Harrow J, Frankish A, Gonzalez JM et al: GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res 2012; 22: 1760-1774.
    • (2012) Genome Res , vol.22 , pp. 1760-1774
    • Harrow, J.1    Frankish, A.2    Gonzalez, J.M.3
  • 19
    • 77955405475 scopus 로고    scopus 로고
    • Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
    • McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F: Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics 2010; 26: 2069-2070.
    • (2010) Bioinformatics , vol.26 , pp. 2069-2070
    • McLaren, W.1    Pritchard, B.2    Rios, D.3    Chen, Y.4    Flicek, P.5    Cunningham, F.6
  • 20
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L et al: A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 21
    • 84873086126 scopus 로고    scopus 로고
    • Chromatin marks identify critical cell types for fine mapping complex trait variants
    • Trynka G, Sandor C, Han B et al: Chromatin marks identify critical cell types for fine mapping complex trait variants. Nat Genet 2013; 45: 124-130.
    • (2013) Nat Genet , vol.45 , pp. 124-130
    • Trynka, G.1    Sandor, C.2    Han, B.3
  • 22
    • 80054973803 scopus 로고    scopus 로고
    • A high-resolution map of human evolutionary constraint using 29 mammals
    • Lindblad-Toh K, Garber M, Zuk O et al: A high-resolution map of human evolutionary constraint using 29 mammals. Nature 2011; 478: 476-482.
    • (2011) Nature , vol.478 , pp. 476-482
    • Lindblad-Toh, K.1    Garber, M.2    Zuk, O.3
  • 23
    • 84866775366 scopus 로고    scopus 로고
    • Evidence of abundant purifying selection in humans for recently acquired regulatory functions
    • Ward LD, Kellis M: Evidence of abundant purifying selection in humans for recently acquired regulatory functions. Science 2012; 337: 1675-1678.
    • (2012) Science , vol.337 , pp. 1675-1678
    • Ward, L.D.1    Kellis, M.2
  • 24
    • 84897459814 scopus 로고    scopus 로고
    • An atlas of active enhancers across human cell types and tissues
    • Andersson R, Gebhard C, Miguel-Escalada I et al: An atlas of active enhancers across human cell types and tissues. Nature 2014; 507: 455-461.
    • (2014) Nature , vol.507 , pp. 455-461
    • Andersson, R.1    Gebhard, C.2    Miguel-Escalada, I.3
  • 25
    • 84888015137 scopus 로고    scopus 로고
    • Super-enhancers in the control of cell identity and disease
    • Hnisz D, Abraham BJ, Lee TI et al: Super-enhancers in the control of cell identity and disease. Cell 2013; 155: 934-947.
    • (2013) Cell , vol.155 , pp. 934-947
    • Hnisz, D.1    Abraham, B.J.2    Lee, T.I.3
  • 26
    • 84865762461 scopus 로고    scopus 로고
    • Functional analysis of transcription factor binding sites in human promoters
    • Whitfield TW, Wang J, Collins PJ et al: Functional analysis of transcription factor binding sites in human promoters. Genome Biol 2012; 13: R50.
    • (2012) Genome Biol , vol.13 , pp. R50
    • Whitfield, T.W.1    Wang, J.2    Collins, P.J.3
  • 28
    • 84943182742 scopus 로고    scopus 로고
    • The UK10K project identifies rare variants in health and disease
    • Consortium UK, Walter K, Min JL et al: The UK10K project identifies rare variants in health and disease. Nature 2015; 526: 82-90.
    • (2015) Nature , vol.526 , pp. 82-90
    • Consortium, U.K.1    Walter, K.2    Min, J.L.3
  • 29
    • 85000443086 scopus 로고    scopus 로고
    • Partitioning heritability by functional annotation using genome-wide association summary statistics
    • Finucane HK, Bulik-SulliVan B, Gusev A et al: Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat Genet 2015; 47: 1228-1235.
    • (2015) Nat Genet , vol.47 , pp. 1228-1235
    • Finucane, H.K.1    Bulik-SulliVan, B.2    Gusev, A.3
  • 30
    • 84891790401 scopus 로고    scopus 로고
    • The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
    • Welter D, MacArthur J, Morales J et al: The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res 2014; 42: D1001-D1006.
    • (2014) Nucleic Acids Res , vol.42 , pp. D1001-D1006
    • Welter, D.1    MacArthur, J.2    Morales, J.3
  • 31
    • 84976904305 scopus 로고    scopus 로고
    • ClinVar: Public archive of interpretations of clinically releVant variants
    • Landrum MJ, Lee JM, Benson M et al: ClinVar: public archive of interpretations of clinically releVant variants. Nucleic Acids Res 2016; 44: D862-D868.
    • (2016) Nucleic Acids Res , vol.44 , pp. D862-D868
    • Landrum, M.J.1    Lee, J.M.2    Benson, M.3
  • 32
    • 84896718035 scopus 로고    scopus 로고
    • High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms
    • Kurki MI, Gaal EI, Kettunen J et al: High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms. PLoS Genet 2014; 10: e1004134.
    • (2014) PLoS Genet , vol.10 , pp. e1004134
    • Kurki, M.I.1    Gaal, E.I.2    Kettunen, J.3
  • 33
    • 84860817223 scopus 로고    scopus 로고
    • Recent explosive human population growth has resulted in an excess of rare genetic variants
    • Keinan A, Clark AG: Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 2012; 336: 740-743.
    • (2012) Science , vol.336 , pp. 740-743
    • Keinan, A.1    Clark, A.G.2
  • 34
    • 78650037203 scopus 로고    scopus 로고
    • Deep resequencing reveals excess rare recent variants consistent with explosive population growth
    • Coventry A, Bull-Otterson LM, Liu X et al: Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun 2010; 1: 131.
    • (2010) Nat Commun , vol.1 , pp. 131
    • Coventry, A.1    Bull-Otterson, L.M.2    Liu, X.3
  • 35
    • 84937424402 scopus 로고    scopus 로고
    • Disentangling the effects of colocalizing genomic annotations to functionally prioritize non-coding variants within complextrait loci
    • Trynka G, Westra HJ, Slowikowski K et al: Disentangling the effects of colocalizing genomic annotations to functionally prioritize non-coding variants within complextrait loci. Am J Hum Genet 2015; 97: 139-152.
    • (2015) Am J Hum Genet , vol.97 , pp. 139-152
    • Trynka, G.1    Westra, H.J.2    Slowikowski, K.3
  • 36
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • Consortium EP: An integrated encyclopedia of DNA elements in the human genome. Nature 2012; 489: 57-74.
    • (2012) Nature , vol.489 , pp. 57-74
    • Consortium, E.P.1
  • 37
    • 84925283769 scopus 로고    scopus 로고
    • What are super-enhancers?
    • Pott S, Lieb JD: What are super-enhancers? Nat Genet 2015; 47: 8-12.
    • (2015) Nat Genet , vol.47 , pp. 8-12
    • Pott, S.1    Lieb, J.D.2


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