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Volumn 24, Issue 10, 2016, Pages 1479-1487

Whole-exome sequencing in an isolated population from the Dalmatian island of Vis

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; COHORT ANALYSIS; DISEASE PREDISPOSITION; ENZYME ACTIVITY; EXOME; GENE FREQUENCY; GENE STRUCTURE; GENETIC VARIATION; GENOTYPE; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; POPULATION GENETICS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; CROATIA; GENETICS; ISLAND (GEOLOGICAL); MOLECULAR EVOLUTION; MUTATION; POPULATION; REPRODUCTIVE ISOLATION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84962734134     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.23     Document Type: Article
Times cited : (9)

References (32)
  • 1
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • Abecasis GR, Auton A, Brooks LD et al: An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65.
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3
  • 2
    • 33747869290 scopus 로고    scopus 로고
    • Health effects of human population isolation and admixture
    • Rudan I: Health effects of human population isolation and admixture. Croat Med J 2006; 47: 526-531.
    • (2006) Croat Med J , vol.47 , pp. 526-531
    • Rudan, I.1
  • 3
    • 33646167611 scopus 로고    scopus 로고
    • 3000 years of solitude: Extreme differentiation in the island isolates of Dalmatia, Croatia
    • Vitart V, Biloglav Z, Hayward C et al: 3000 years of solitude: extreme differentiation in the island isolates of Dalmatia, Croatia. Eur J Hum Genet 2006; 14: 478-487.
    • (2006) Eur J Hum Genet , vol.14 , pp. 478-487
    • Vitart, V.1    Biloglav, Z.2    Hayward, C.3
  • 4
    • 10744222495 scopus 로고    scopus 로고
    • Y chromosomal heritage of Croatian population and its island isolates
    • Barac L, Pericic M, Klaric IM et al: Y chromosomal heritage of Croatian population and its island isolates. Eur J Hum Genet 2003; 11: 535-542.
    • (2003) Eur J Hum Genet , vol.11 , pp. 535-542
    • Barac, L.1    Pericic, M.2    Klaric, I.M.3
  • 5
    • 67549100084 scopus 로고    scopus 로고
    • Historic, demographic, and genetic evidence for increased population frequencies of CCR5Delta32 mutation in Croatian Island isolates after lethal 15th century epidemics
    • Biloglav Z, Zgaga L, Smoljanovic M et al: Historic, demographic, and genetic evidence for increased population frequencies of CCR5Delta32 mutation in Croatian Island isolates after lethal 15th century epidemics. Croat Med J 2009; 50: 34-42.
    • (2009) Croat Med J , vol.50 , pp. 34-42
    • Biloglav, Z.1    Zgaga, L.2    Smoljanovic, M.3
  • 6
    • 0033251151 scopus 로고    scopus 로고
    • Genetic epidemiological studies of eastern Adriatic island isolates Croatia objective and strategies
    • Rudan I, Campbell H, Rudan P. Genetic epidemiological studies of eastern Adriatic Island isolates, Croatia: objective and strategies. Coll Antropol 1999; 23: 531-546.
    • (1999) Coll Antropol , vol.23 , pp. 531-546
    • Rudan, I.1    Campbell, H.2    Rudan, P.3
  • 7
    • 84884587140 scopus 로고    scopus 로고
    • Inference of identity by descent in population isolates and optimal sequencing studies
    • Glodzik D, Navarro P, Vitart V et al: Inference of identity by descent in population isolates and optimal sequencing studies. Eur J Hum Genet 2013; 21: 1140-1145.
    • (2013) Eur J Hum Genet , vol.21 , pp. 1140-1145
    • Glodzik, D.1    Navarro, P.2    Vitart, V.3
  • 8
    • 84890690821 scopus 로고    scopus 로고
    • A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates
    • Tachmazidou I, Dedoussis G, Southam L et al: A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates. Nat Commun 2013; 4: 2872.
    • (2013) Nat Commun , vol.4 , pp. 2872
    • Tachmazidou, I.1    Dedoussis, G.2    Southam, L.3
  • 9
    • 84884769487 scopus 로고    scopus 로고
    • In search of low-frequency and rare variants affecting complex traits
    • Panoutsopoulou K, Tachmazidou I, Zeggini E. In search of low-frequency and rare variants affecting complex traits. Hum Mol Genet 2013; 22: R16-R21.
    • (2013) Hum Mol Genet , vol.22 , pp. R16-R21
    • Panoutsopoulou, K.1    Tachmazidou, I.2    Zeggini, E.3
  • 10
    • 67549135178 scopus 로고    scopus 로고
    • 10001 Dalmatians:' Croatia launches its national biobank
    • Rudan I, Marusic A, Jankovic S et al: '10001 Dalmatians:' Croatia launches its national biobank. Croat Med J 2009; 50: 4-6.
    • (2009) Croat Med J , vol.50 , pp. 4-6
    • Rudan, I.1    Marusic, A.2    Jankovic, S.3
  • 11
    • 84888395985 scopus 로고    scopus 로고
    • Future of biobanks-bigger, longer, and more dimensional
    • Polasek O. Future of biobanks-bigger, longer, and more dimensional. Croat Med J 2013; 54: 496-500.
    • (2013) Croat Med J , vol.54 , pp. 496-500
    • Polasek, O.1
  • 12
    • 84904912246 scopus 로고    scopus 로고
    • H3M2: Detection of runs of homozygosity from whole-exome sequencing data
    • Magi A, Tattini L, Palombo F et al: H3M2: detection of runs of homozygosity from whole-exome sequencing data. Bioinformatics 2014; 30: 2852-2859.
    • (2014) Bioinformatics , vol.30 , pp. 2852-2859
    • Magi, A.1    Tattini, L.2    Palombo, F.3
  • 15
    • 84863116742 scopus 로고    scopus 로고
    • A systematic survey of loss-offunction variants in human protein-coding genes
    • MacArthur DG, Balasubramanian S, Frankish A et al: A systematic survey of loss-offunction variants in human protein-coding genes. Science 2012; 335: 823-828.
    • (2012) Science , vol.335 , pp. 823-828
    • MacArthur, D.G.1    Balasubramanian, S.2    Frankish, A.3
  • 16
    • 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
  • 17
    • 78049323331 scopus 로고    scopus 로고
    • Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
    • Li Y, Vinckenbosch N, Tian G et al: Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet 2010; 42: 969-972.
    • (2010) Nat Genet , vol.42 , pp. 969-972
    • Li, Y.1    Vinckenbosch, N.2    Tian, G.3
  • 18
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen JA, Bigham AW, O'Connor TD et al: Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012; 337: 64-69.
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1    Bigham, A.W.2    O'Connor, T.D.3
  • 19
    • 84905460411 scopus 로고    scopus 로고
    • Distribution and medical impact of loss-of-function variants in the Finnish founder population
    • Lim ET, Wurtz P, Havulinna AS et al: Distribution and medical impact of loss-of-function 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
  • 20
    • 84923354302 scopus 로고    scopus 로고
    • Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants
    • Panoutsopoulou K, Hatzikotoulas K, Xifara DK et al: Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants. Nat Commun 2014; 5: 5345.
    • (2014) Nat Commun , vol.5 , pp. 5345
    • Panoutsopoulou, K.1    Hatzikotoulas, K.2    Xifara, D.K.3
  • 21
    • 39749139577 scopus 로고    scopus 로고
    • Proportionally more deleterious genetic variation in European than in African populations
    • Lohmueller KE, Indap AR, Schmidt S et al: Proportionally more deleterious genetic variation in European than in African populations. Nature 2008; 451: 994-997.
    • (2008) Nature , vol.451 , pp. 994-997
    • Lohmueller, K.E.1    Indap, A.R.2    Schmidt, S.3
  • 22
    • 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
  • 23
    • 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
  • 24
    • 84887109646 scopus 로고    scopus 로고
    • Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect
    • Gazave E, Chang D, Clark AG, Keinan A. Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect. Genetics 2013; 195: 969-978.
    • (2013) Genetics , vol.195 , pp. 969-978
    • Gazave, E.1    Chang, D.2    Clark, A.G.3    Keinan, A.4
  • 25
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • 1000 Genomes Project Consortium
    • 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061-1073.
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 26
    • 84921802384 scopus 로고    scopus 로고
    • Human knockout research: New horizons and opportunities
    • Alkuraya FS. Human knockout research: new horizons and opportunities. Trends Genet 2015; 31: 108-115.
    • (2015) Trends Genet , vol.31 , pp. 108-115
    • Alkuraya, F.S.1
  • 28
    • 84888213196 scopus 로고    scopus 로고
    • Whole genome, whole population sequencing reveals that loss of signaling networks is the major adaptive strategy in a constant environment
    • Kvitek DJ, Sherlock G. Whole genome, whole population sequencing reveals that loss of signaling networks is the major adaptive strategy in a constant environment. PLoS Genet 2013; 9: e1003972.
    • (2013) PLoS Genet , vol.9 , pp. e1003972
    • Kvitek, D.J.1    Sherlock, G.2
  • 29
    • 84857641821 scopus 로고    scopus 로고
    • Differential confounding of rare and common variants in spatially structured populations
    • Mathieson I, McVean G. Differential confounding of rare and common variants in spatially structured populations. Nat Genet 2012; 44: 243-246.
    • (2012) Nat Genet , vol.44 , pp. 243-246
    • Mathieson, I.1    McVean, G.2
  • 30
    • 84863541347 scopus 로고    scopus 로고
    • An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
    • Nelson MR, Wegmann D, Ehm MG et al: An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 2012; 337: 100-104.
    • (2012) Science , vol.337 , pp. 100-104
    • Nelson, M.R.1    Wegmann, D.2    Ehm, M.G.3
  • 31
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • Burton PR, Clayton DG, Cardon LR et al: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447: 661-678.
    • (2007) Nature , vol.447 , pp. 661-678
    • Burton, P.R.1    Clayton, D.G.2    Cardon, L.R.3
  • 32
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • DePristo MA, Banks E, Poplin R et al: A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011; 43: 491-498.
    • (2011) Nat Genet , vol.43 , pp. 491-498
    • DePristo, M.A.1    Banks, E.2    Poplin, R.3


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