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Volumn 135, Issue 6, 2016, Pages 625-634

Discovery of rare variants for complex phenotypes

Author keywords

[No Author keywords available]

Indexed keywords

EXOME; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME; PHENOTYPE; PRIORITY JOURNAL; REVIEW; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; MUTATION;

EID: 84971372240     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-016-1679-1     Document Type: Review
Times cited : (37)

References (98)
  • 1
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • COI: 1:CAS:528:DC%2BC3cXjvFKqu78%3D, PID: 20354512
    • Adzhubei IA et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1
  • 2
    • 84934984598 scopus 로고    scopus 로고
    • Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans
    • PID: 26114229
    • Ashley-Koch AE et al (2015) Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans. J Affect Disord 184:225–234
    • (2015) J Affect Disord , vol.184 , pp. 225-234
    • Ashley-Koch, A.E.1
  • 3
    • 84858729755 scopus 로고    scopus 로고
    • ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data
    • COI: 1:CAS:528:DC%2BC38Xnt1ajur4%3D, PID: 22441326
    • Asimit JL, Day-Williams AG, Morris AP, Zeggini E (2012) ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data. Hum Hered 73:84–94
    • (2012) Hum Hered , vol.73 , pp. 84-94
    • Asimit, J.L.1    Day-Williams, A.G.2    Morris, A.P.3    Zeggini, E.4
  • 4
    • 84924907990 scopus 로고    scopus 로고
    • Rare variant association studies: considerations, challenges and opportunities
    • PID: 25709717
    • Auer PL, Lettre G (2015) Rare variant association studies: considerations, challenges and opportunities. Genome Med 7:16
    • (2015) Genome Med , vol.7 , pp. 16
    • Auer, P.L.1    Lettre, G.2
  • 5
    • 77958102016 scopus 로고    scopus 로고
    • Statistical analysis strategies for association studies involving rare variants
    • COI: 1:CAS:528:DC%2BC3cXhtlShsLvI, PID: 20940738
    • Bansal V, Libiger O, Torkamani A, Schork NJ (2010) Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet 11:773–785
    • (2010) Nat Rev Genet , vol.11 , pp. 773-785
    • Bansal, V.1    Libiger, O.2    Torkamani, A.3    Schork, N.J.4
  • 6
    • 84864599004 scopus 로고    scopus 로고
    • Guidelines for genome-wide association studies
    • COI: 1:CAS:528:DC%2BC38XhtVars7zO, PID: 22792080
    • Barsh GS, Copenhaver GP, Gibson G, Williams SM (2012) Guidelines for genome-wide association studies. PLoS Genet 8:e1002812
    • (2012) PLoS Genet , vol.8 , pp. e1002812
    • Barsh, G.S.1    Copenhaver, G.P.2    Gibson, G.3    Williams, S.M.4
  • 7
    • 0028890851 scopus 로고
    • Achondroplasia is defined by recurrent G380R mutations of FGFR3
    • COI: 1:STN:280:DyaK2M7ltVShtw%3D%3D, PID: 7847369
    • Bellus GA et al (1995) Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 56:368–373
    • (1995) Am J Hum Genet , vol.56 , pp. 368-373
    • Bellus, G.A.1
  • 8
    • 84895928909 scopus 로고    scopus 로고
    • Sequence kernel association test for survival traits
    • PID: 24464521
    • Chen H et al (2014) Sequence kernel association test for survival traits. Genet Epidemiol 38:191–197
    • (2014) Genet Epidemiol , vol.38 , pp. 191-197
    • Chen, H.1
  • 9
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • COI: 1:CAS:528:DC%2BD2cXmt1Krsbk%3D, PID: 15297675
    • Cohen JC et al (2004) Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305:869–872
    • (2004) Science , vol.305 , pp. 869-872
    • Cohen, J.C.1
  • 10
    • 13944265645 scopus 로고    scopus 로고
    • Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
    • COI: 1:CAS:528:DC%2BD2MXnslKntg%3D%3D, PID: 15654334
    • Cohen J et al (2005) Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 37:161–165
    • (2005) Nat Genet , vol.37 , pp. 161-165
    • Cohen, J.1
  • 11
    • 33645103550 scopus 로고    scopus 로고
    • Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    • COI: 1:CAS:528:DC%2BD28Xislequr8%3D, PID: 16554528
    • Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH (2006) Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 354:1264–1272
    • (2006) N Engl J Med , vol.354 , pp. 1264-1272
    • Cohen, J.C.1    Boerwinkle, E.2    Mosley, T.H.3    Hobbs, H.H.4
  • 12
    • 79959725029 scopus 로고    scopus 로고
    • Variation in genome-wide mutation rates within and between human families
    • COI: 1:CAS:528:DC%2BC3MXnsVWqtLs%3D, PID: 21666693
    • Conrad DF et al (2011) Variation in genome-wide mutation rates within and between human families. Nat Genet 43:712–714
    • (2011) Nat Genet , vol.43 , pp. 712-714
    • Conrad, D.F.1
  • 13
    • 80051968181 scopus 로고    scopus 로고
    • Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
    • COI: 1:CAS:528:DC%2BC3MXhtVeiurrP, PID: 21850043
    • Cooper GM, Shendure J (2011) Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet 12:628–640
    • (2011) Nat Rev Genet , vol.12 , pp. 628-640
    • Cooper, G.M.1    Shendure, J.2
  • 14
    • 0018185292 scopus 로고
    • Molecular basis of base substitution hotspots in Escherichia coli
    • COI: 1:CAS:528:DyaE1MXpvFylsA%3D%3D, PID: 355893
    • Coulondre C, Miller JH, Farabaugh PJ, Gilbert W (1978) Molecular basis of base substitution hotspots in Escherichia coli. Nature 274:775–780
    • (1978) Nature , vol.274 , pp. 775-780
    • Coulondre, C.1    Miller, J.H.2    Farabaugh, P.J.3    Gilbert, W.4
  • 15
    • 78651237647 scopus 로고    scopus 로고
    • Identifying a high fraction of the human genome to be under selective constraint using GERP ++
    • PID: 21152010
    • Davydov EV et al (2010) Identifying a high fraction of the human genome to be under selective constraint using GERP ++. PLoS Comput Biol 6:e1001025
    • (2010) PLoS Comput Biol , vol.6 , pp. e1001025
    • Davydov, E.V.1
  • 16
    • 84924666082 scopus 로고    scopus 로고
    • Large-scale discovery of novel genetic causes of developmental disorders
    • Deciphering Developmental Disorders S (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature 519:223–228
    • (2015) Nature , vol.519 , pp. 223-228
    • Deciphering Developmental Disorders, S.1
  • 17
    • 84868686559 scopus 로고    scopus 로고
    • Diagnostic exome sequencing in persons with severe intellectual disability
    • PID: 23033978
    • de Ligt J et al (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921–1929
    • (2012) N Engl J Med , vol.367 , pp. 1921-1929
    • de Ligt, J.1
  • 18
    • 84912144889 scopus 로고    scopus 로고
    • Synaptic, transcriptional and chromatin genes disrupted in autism
    • PID: 25363760
    • De Rubeis S et al (2014) Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515:209–215
    • (2014) Nature , vol.515 , pp. 209-215
    • De Rubeis, S.1
  • 19
    • 17244379811 scopus 로고    scopus 로고
    • Complement factor H polymorphism and age-related macular degeneration
    • COI: 1:CAS:528:DC%2BD2MXjtFOntLw%3D, PID: 15761121
    • Edwards AO et al (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308:421–424
    • (2005) Science , vol.308 , pp. 421-424
    • Edwards, A.O.1
  • 20
    • 84937974324 scopus 로고    scopus 로고
    • On the use of the transmission disequilibrium test to detect pseudo-autosomal variants affecting traits with sex-limited expression
    • COI: 1:CAS:528:DC%2BC2MXht1Kku7rF, PID: 25996251
    • Elansary M et al (2015) On the use of the transmission disequilibrium test to detect pseudo-autosomal variants affecting traits with sex-limited expression. Anim Genet 46:395–402
    • (2015) Anim Genet , vol.46 , pp. 395-402
    • Elansary, M.1
  • 21
    • 0345447463 scopus 로고    scopus 로고
    • Mutation rate variation in the mammalian genome
    • COI: 1:CAS:528:DC%2BD3sXpt1SnsLw%3D, PID: 14638315
    • Ellegren H, Smith NG, Webster MT (2003) Mutation rate variation in the mammalian genome. Curr Opin Genet Dev 13:562–568
    • (2003) Curr Opin Genet Dev , vol.13 , pp. 562-568
    • Ellegren, H.1    Smith, N.G.2    Webster, M.T.3
  • 22
    • 84864397328 scopus 로고    scopus 로고
    • Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
    • COI: 1:CAS:528:DC%2BC38XpvFClurw%3D, PID: 22772370
    • Emond MJ et al (2012) Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet 44:886–889
    • (2012) Nat Genet , vol.44 , pp. 886-889
    • Emond, M.J.1
  • 23
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • ENCODE Project Consortium (2012) An integrated encyclopedia of DNA elements in the human genome. Nature 489:57–74
    • (2012) Nature , vol.489 , pp. 57-74
    • ENCODE Project Consortium1
  • 24
    • 84911435067 scopus 로고    scopus 로고
    • RAREMETAL: fast and powerful meta-analysis for rare variants
    • PID: 24894501
    • Feng S, Liu D, Zhan X, Wing MK, Abecasis GR (2014) RAREMETAL: fast and powerful meta-analysis for rare variants. Bioinformatics 30:2828–2829
    • (2014) Bioinformatics , vol.30 , pp. 2828-2829
    • Feng, S.1    Liu, D.2    Zhan, X.3    Wing, M.K.4    Abecasis, G.R.5
  • 25
    • 84897407583 scopus 로고    scopus 로고
    • Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
    • COI: 1:CAS:528:DC%2BC2cXjtl2jtrY%3D, PID: 24584071
    • Flannick J et al (2014) Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat Genet 46:357–363
    • (2014) Nat Genet , vol.46 , pp. 357-363
    • Flannick, J.1
  • 26
    • 84872143942 scopus 로고    scopus 로고
    • Analysis of 6515 exomes reveals the recent origin of most human protein-coding variants
    • COI: 1:CAS:528:DC%2BC38Xhslymt77I, PID: 23201682
    • Fu W et al (2013) Analysis of 6515 exomes reveals the recent origin of most human protein-coding variants. Nature 493:216–220
    • (2013) Nature , vol.493 , pp. 216-220
    • Fu, W.1
  • 27
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • Genomes Project C et al (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061–1073
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Genomes Project, C.1
  • 28
    • 84928198929 scopus 로고    scopus 로고
    • The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity
    • PID: 25684150
    • Grimm DG et al (2015) The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Hum Mutat 36:513–523
    • (2015) Hum Mutat , vol.36 , pp. 513-523
    • Grimm, D.G.1
  • 29
    • 84870531459 scopus 로고    scopus 로고
    • A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer
    • COI: 1:CAS:528:DC%2BC38XhsFOmtbzO, PID: 23104005
    • Gudmundsson J et al (2012) A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. Nat Genet 44:1326–1329
    • (2012) Nat Genet , vol.44 , pp. 1326-1329
    • Gudmundsson, J.1
  • 30
    • 79959557454 scopus 로고    scopus 로고
    • Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants
    • PID: 21308769
    • Guey LT et al (2011) Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants. Genet Epidemiol 35:236–246
    • (2011) Genet Epidemiol , vol.35 , pp. 236-246
    • Guey, L.T.1
  • 31
    • 18544404720 scopus 로고    scopus 로고
    • Covariation in frequencies of substitution, deletion, transposition, and recombination during eutherian evolution
    • COI: 1:CAS:528:DC%2BD3sXnvFGmsg%3D%3D, PID: 12529302
    • Hardison RC et al (2003) Covariation in frequencies of substitution, deletion, transposition, and recombination during eutherian evolution. Genome Res 13:13–26
    • (2003) Genome Res , vol.13 , pp. 13-26
    • Hardison, R.C.1
  • 32
    • 84917738067 scopus 로고    scopus 로고
    • Using population isolates in genetic association studies
    • Hatzikotoulas K, Gilly A, Zeggini E (2014) Using population isolates in genetic association studies. Brief Funct Genom 13:371–377
    • (2014) Brief Funct Genom , vol.13 , pp. 371-377
    • Hatzikotoulas, K.1    Gilly, A.2    Zeggini, E.3
  • 33
    • 84884620245 scopus 로고    scopus 로고
    • Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
    • COI: 1:CAS:528:DC%2BC3sXhsVagtLjP, PID: 23966865
    • He X et al (2013) Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet 9:e1003671
    • (2013) PLoS Genet , vol.9 , pp. e1003671
    • He, X.1
  • 34
    • 84891831893 scopus 로고    scopus 로고
    • Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data
    • COI: 1:CAS:528:DC%2BC3sXhvFOltLrP, PID: 24360806
    • He Z et al (2014) Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet 94:33–46
    • (2014) Am J Hum Genet , vol.94 , pp. 33-46
    • He, Z.1
  • 35
    • 20244378207 scopus 로고    scopus 로고
    • Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland
    • COI: 1:STN:280:DC%2BD3cvktFemsw%3D%3D, PID: 10931763
    • Helgason A et al (2000) Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland. Am J Hum Genet 67:697–717
    • (2000) Am J Hum Genet , vol.67 , pp. 697-717
    • Helgason, A.1
  • 36
    • 0035092776 scopus 로고    scopus 로고
    • mtDna and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry
    • COI: 1:CAS:528:DC%2BD3MXit1aksrg%3D, PID: 11179019
    • Helgason A et al (2001) mtDna and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry. Am J Hum Genet 68:723–737
    • (2001) Am J Hum Genet , vol.68 , pp. 723-737
    • Helgason, A.1
  • 37
    • 24344455529 scopus 로고    scopus 로고
    • Why do human diversity levels vary at a megabase scale?
    • COI: 1:CAS:528:DC%2BD2MXpvF2ls7k%3D, PID: 16140990
    • Hellmann I et al (2005) Why do human diversity levels vary at a megabase scale? Genome Res 15:1222–1231
    • (2005) Genome Res , vol.15 , pp. 1222-1231
    • Hellmann, I.1
  • 38
    • 84956688641 scopus 로고    scopus 로고
    • A spectral approach integrating functional genomic annotations for coding and noncoding variants
    • COI: 1:CAS:528:DC%2BC28XhvFKnsA%3D%3D, PID: 26727659
    • Ionita-Laza I, McCallum K, Xu B, Buxbaum JD (2016) A spectral approach integrating functional genomic annotations for coding and noncoding variants. Nat Genet 48:214–220
    • (2016) Nat Genet , vol.48 , pp. 214-220
    • Ionita-Laza, I.1    McCallum, K.2    Xu, B.3    Buxbaum, J.D.4
  • 39
    • 84860297457 scopus 로고    scopus 로고
    • De novo gene disruptions in children on the autistic spectrum
    • COI: 1:CAS:528:DC%2BC38XmtFGgt7k%3D, PID: 22542183
    • Iossifov I et al (2012) De novo gene disruptions in children on the autistic spectrum. Neuron 74:285–299
    • (2012) Neuron , vol.74 , pp. 285-299
    • Iossifov, I.1
  • 40
    • 84912101541 scopus 로고    scopus 로고
    • The contribution of de novo coding mutations to autism spectrum disorder
    • COI: 1:CAS:528:DC%2BC2cXhvVemtrnN, PID: 25363768
    • Iossifov I et al (2014) The contribution of de novo coding mutations to autism spectrum disorder. Nature 515:216–221
    • (2014) Nature , vol.515 , pp. 216-221
    • Iossifov, I.1
  • 41
    • 84861618864 scopus 로고    scopus 로고
    • Exome sequencing and the genetic basis of complex traits
    • COI: 1:CAS:528:DC%2BC38XnsFKgsL0%3D, PID: 22641211
    • Kiezun A et al (2012) Exome sequencing and the genetic basis of complex traits. Nat Genet 44:623–630
    • (2012) Nat Genet , vol.44 , pp. 623-630
    • Kiezun, A.1
  • 42
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • COI: 1:CAS:528:DC%2BC2cXhs1Sjt7g%3D, PID: 24487276
    • Kircher M et al (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46:310–315
    • (2014) Nat Genet , vol.46 , pp. 310-315
    • Kircher, M.1
  • 43
    • 0024095149 scopus 로고
    • Gm3;5,13,14 and type 2 diabetes mellitus: an association in American Indians with genetic admixture
    • COI: 1:STN:280:DyaL1M%2FitlWjtQ%3D%3D, PID: 3177389
    • Knowler WC, Williams RC, Pettitt DJ, Steinberg AG (1988) Gm3;5,13,14 and type 2 diabetes mellitus: an association in American Indians with genetic admixture. Am J Hum Genet 43:520–526
    • (1988) Am J Hum Genet , vol.43 , pp. 520-526
    • Knowler, W.C.1    Williams, R.C.2    Pettitt, D.J.3    Steinberg, A.G.4
  • 44
    • 0037224621 scopus 로고    scopus 로고
    • Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases
    • COI: 1:CAS:528:DC%2BD3sXot1amug%3D%3D, PID: 12497628
    • Kondrashov AS (2003) Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases. Hum Mutat 21:12–27
    • (2003) Hum Mutat , vol.21 , pp. 12-27
    • Kondrashov, A.S.1
  • 45
    • 62649084535 scopus 로고    scopus 로고
    • Power of deep, all-exon resequencing for discovery of human trait genes
    • COI: 1:CAS:528:DC%2BD1MXjt1Gksbs%3D, PID: 19202052
    • Kryukov GV, Shpunt A, Stamatoyannopoulos JA, Sunyaev SR (2009) Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci U S A 106:3871–3876
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 3871-3876
    • Kryukov, G.V.1    Shpunt, A.2    Stamatoyannopoulos, J.A.3    Sunyaev, S.R.4
  • 46
    • 0028877463 scopus 로고
    • Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
    • COI: 1:CAS:528:DyaK2MXptlSjs74%3D, PID: 7581446
    • Lander E, Kruglyak L (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241–247
    • (1995) Nat Genet , vol.11 , pp. 241-247
    • Lander, E.1    Kruglyak, L.2
  • 47
    • 0028090414 scopus 로고
    • Genetic dissection of complex traits
    • COI: 1:STN:280:DyaK2cznvVSjsg%3D%3D, PID: 8091226
    • Lander ES, Schork NJ (1994) Genetic dissection of complex traits. Science 265:2037–2048
    • (1994) Science , vol.265 , pp. 2037-2048
    • Lander, E.S.1    Schork, N.J.2
  • 48
    • 84880294630 scopus 로고    scopus 로고
    • General framework for meta-analysis of rare variants in sequencing association studies
    • COI: 1:CAS:528:DC%2BC3sXpsFShs7s%3D, PID: 23768515
    • Lee S, Teslovich TM, Boehnke M, Lin X (2013) General framework for meta-analysis of rare variants in sequencing association studies. Am J Hum Genet 93:42–53
    • (2013) Am J Hum Genet , vol.93 , pp. 42-53
    • Lee, S.1    Teslovich, T.M.2    Boehnke, M.3    Lin, X.4
  • 49
    • 84904006087 scopus 로고    scopus 로고
    • Rare-variant association analysis: study designs and statistical tests
    • COI: 1:CAS:528:DC%2BC2cXhtFWgu77L, PID: 24995866
    • Lee S, Abecasis GR, Boehnke M, Lin X (2014) Rare-variant association analysis: study designs and statistical tests. Am J Hum Genet 95:5–23
    • (2014) Am J Hum Genet , vol.95 , pp. 5-23
    • Lee, S.1    Abecasis, G.R.2    Boehnke, M.3    Lin, X.4
  • 50
    • 84957823399 scopus 로고    scopus 로고
    • Analysis of protein-coding genetic variation in 60,706 humans
    • Lek M et al (2015) Analysis of protein-coding genetic variation in 60,706 humans. bioRxiv
    • (2015) bioRxiv
    • Lek, M.1
  • 51
    • 0036640951 scopus 로고    scopus 로고
    • Human SNP variability and mutation rate are higher in regions of high recombination
    • COI: 1:CAS:528:DC%2BD38XlsVOmu7k%3D, PID: 12127766
    • Lercher MJ, Hurst LD (2002) Human SNP variability and mutation rate are higher in regions of high recombination. Trends Genet 18:337–340
    • (2002) Trends Genet , vol.18 , pp. 337-340
    • Lercher, M.J.1    Hurst, L.D.2
  • 52
    • 16944363862 scopus 로고    scopus 로고
    • Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families
    • COI: 1:STN:280:DyaK2s3psVeqtQ%3D%3D, PID: 9150153
    • Levy-Lahad E et al (1997) Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. Am J Hum Genet 60:1059–1067
    • (1997) Am J Hum Genet , vol.60 , pp. 1059-1067
    • Levy-Lahad, E.1
  • 53
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
    • COI: 1:CAS:528:DC%2BD1cXhtFOisbfE, PID: 18691683
    • Li B, Leal SM (2008) Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 83:311–321
    • (2008) Am J Hum Genet , vol.83 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 54
    • 84877772904 scopus 로고    scopus 로고
    • FaST-LMM-Select for addressing confounding from spatial structure and rare variants
    • COI: 1:CAS:528:DC%2BC3sXms1Wgtrk%3D, PID: 23619783
    • Listgarten J, Lippert C, Heckerman D (2013) FaST-LMM-Select for addressing confounding from spatial structure and rare variants. Nat Genet 45:470–471
    • (2013) Nat Genet , vol.45 , pp. 470-471
    • Listgarten, J.1    Lippert, C.2    Heckerman, D.3
  • 55
    • 78649775312 scopus 로고    scopus 로고
    • Replication strategies for rare variant complex trait association studies via next-generation sequencing
    • COI: 1:CAS:528:DC%2BC3cXhsFags7bP, PID: 21129725
    • Liu DJ, Leal SM (2010) Replication strategies for rare variant complex trait association studies via next-generation sequencing. Am J Hum Genet 87:790–801
    • (2010) Am J Hum Genet , vol.87 , pp. 790-801
    • Liu, D.J.1    Leal, S.M.2
  • 56
    • 84895808047 scopus 로고    scopus 로고
    • Meta-analysis of gene-level tests for rare variant association
    • COI: 1:CAS:528:DC%2BC3sXhvFensbjK, PID: 24336170
    • Liu DJ et al (2014) Meta-analysis of gene-level tests for rare variant association. Nat Genet 46:200–204
    • (2014) Nat Genet , vol.46 , pp. 200-204
    • Liu, D.J.1
  • 57
    • 84923171580 scopus 로고    scopus 로고
    • Genetic studies of body mass index yield new insights for obesity biology
    • COI: 1:CAS:528:DC%2BC2MXislehtL8%3D, PID: 25673413
    • Locke AE et al (2015) Genetic studies of body mass index yield new insights for obesity biology. Nature 518:197–206
    • (2015) Nature , vol.518 , pp. 197-206
    • Locke, A.E.1
  • 58
    • 84863116742 scopus 로고    scopus 로고
    • A systematic survey of loss-of-function variants in human protein-coding genes
    • COI: 1:CAS:528:DC%2BC38XitFGqur0%3D, PID: 22344438
    • MacArthur DG et al (2012) A systematic survey of loss-of-function variants in human protein-coding genes. Science 335:823–828
    • (2012) Science , vol.335 , pp. 823-828
    • MacArthur, D.G.1
  • 59
    • 61449168010 scopus 로고    scopus 로고
    • A groupwise association test for rare mutations using a weighted sum statistic
    • PID: 19214210
    • Madsen BE, Browning SR (2009) A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 5:e1000384
    • (2009) PLoS Genet , vol.5 , pp. e1000384
    • Madsen, B.E.1    Browning, S.R.2
  • 60
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • COI: 1:CAS:528:DC%2BD1MXht1CisbrF, PID: 19812666
    • Manolio TA et al (2009) Finding the missing heritability of complex diseases. Nature 461:747–753
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1
  • 61
    • 84857641821 scopus 로고    scopus 로고
    • Differential confounding of rare and common variants in spatially structured populations
    • COI: 1:CAS:528:DC%2BC38XhslGksL4%3D, PID: 22306651
    • Mathieson I, McVean G (2012) Differential confounding of rare and common variants in spatially structured populations. Nat Genet 44:243–246
    • (2012) Nat Genet , vol.44 , pp. 243-246
    • Mathieson, I.1    McVean, G.2
  • 62
    • 84878537339 scopus 로고    scopus 로고
    • Reply to: “FaST-LMM-Select for addressing confounding from spatial structure and rare variants
    • COI: 1:CAS:528:DC%2BC3sXms1Wgtrg%3D, PID: 23619784
    • Mathieson I, McVean G (2013) Reply to: “FaST-LMM-Select for addressing confounding from spatial structure and rare variants”. Nat Genet 45:471
    • (2013) Nat Genet , vol.45 , pp. 471
    • Mathieson, I.1    McVean, G.2
  • 63
    • 33846014328 scopus 로고    scopus 로고
    • A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST)
    • COI: 1:CAS:528:DC%2BD2sXlslWisA%3D%3D
    • Morgenthaler S, Thilly WG (2007) A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). Mutat Res, Fundam Mol Mech Mutagen 615:28–56
    • (2007) Mutat Res, Fundam Mol Mech Mutagen , vol.615 , pp. 28-56
    • Morgenthaler, S.1    Thilly, W.G.2
  • 64
    • 76649136928 scopus 로고    scopus 로고
    • An evaluation of statistical approaches to rare variant analysis in genetic association studies
    • PID: 19810025
    • Morris AP, Zeggini E (2010) An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol 34:188–193
    • (2010) Genet Epidemiol , vol.34 , pp. 188-193
    • Morris, A.P.1    Zeggini, E.2
  • 65
    • 85000613803 scopus 로고    scopus 로고
    • The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease
    • PID: 25906071
    • Moutsianas L et al (2015) The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease. PLoS Genet 11:e1005165
    • (2015) PLoS Genet , vol.11 , pp. e1005165
    • Moutsianas, L.1
  • 66
    • 4143134235 scopus 로고    scopus 로고
    • The future of association studies: gene-based analysis and replication
    • COI: 1:CAS:528:DC%2BD2cXnt1Wgt7w%3D, PID: 15272419
    • Neale BM, Sham PC (2004) The future of association studies: gene-based analysis and replication. Am J Hum Genet 75:353–362
    • (2004) Am J Hum Genet , vol.75 , pp. 353-362
    • Neale, B.M.1    Sham, P.C.2
  • 67
    • 79953752624 scopus 로고    scopus 로고
    • Testing for an unusual distribution of rare variants
    • COI: 1:CAS:528:DC%2BC3MXjt1Kiurw%3D, PID: 21408211
    • Neale BM et al (2011) Testing for an unusual distribution of rare variants. PLoS Genet 7:e1001322
    • (2011) PLoS Genet , vol.7 , pp. e1001322
    • Neale, B.M.1
  • 68
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • COI: 1:CAS:528:DC%2BC38XmtVerurs%3D, PID: 22495311
    • Neale BM et al (2012) Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485:242–245
    • (2012) Nature , vol.485 , pp. 242-245
    • Neale, B.M.1
  • 69
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • COI: 1:CAS:528:DC%2BD3MXjs1Wmu7w%3D, PID: 11337480
    • Ng PC, Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11:863–874
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 70
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • PID: 22495309
    • O’Roak BJ et al (2012) Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485:246–250
    • (2012) Nature , vol.485 , pp. 246-250
    • O’Roak, B.J.1
  • 71
    • 79551696686 scopus 로고    scopus 로고
    • Genome-wide association study of hoarding traits
    • PID: 21302353
    • Perroud N et al (2011) Genome-wide association study of hoarding traits. Am J Med Genet B Neuropsychiatr Genet 156:240–242
    • (2011) Am J Med Genet B Neuropsychiatr Genet , vol.156 , pp. 240-242
    • Perroud, N.1
  • 72
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • COI: 1:CAS:528:DC%2BD28XnsVCgsrg%3D, PID: 16862161
    • Price AL et al (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904–909
    • (2006) Nat Genet , vol.38 , pp. 904-909
    • Price, A.L.1
  • 73
    • 0035528928 scopus 로고    scopus 로고
    • Case-control studies of association in structured or admixed populations
    • COI: 1:STN:280:DC%2BD387msVyjtw%3D%3D, PID: 11855957
    • Pritchard JK, Donnelly P (2001) Case-control studies of association in structured or admixed populations. Theor Popul Biol 60:227–237
    • (2001) Theor Popul Biol , vol.60 , pp. 227-237
    • Pritchard, J.K.1    Donnelly, P.2
  • 74
    • 63449100039 scopus 로고    scopus 로고
    • Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: design of prospective meta-analyses of genome-wide association studies from 5 cohorts
    • PID: 20031568
    • Psaty BM et al (2009) Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: design of prospective meta-analyses of genome-wide association studies from 5 cohorts. Circ Cardiovasc Genet 2:73–80
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 73-80
    • Psaty, B.M.1
  • 75
    • 84893904007 scopus 로고    scopus 로고
    • A polygenic burden of rare disruptive mutations in schizophrenia
    • COI: 1:CAS:528:DC%2BC2cXisVamurc%3D, PID: 24463508
    • Purcell SM et al (2014) A polygenic burden of rare disruptive mutations in schizophrenia. Nature 506:185–190
    • (2014) Nature , vol.506 , pp. 185-190
    • Purcell, S.M.1
  • 76
    • 84895868553 scopus 로고    scopus 로고
    • Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
    • Replication DIG et al (2014) Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet 46:234–244
    • (2014) Nat Genet , vol.46 , pp. 234-244
    • Replication, D.I.G.1
  • 77
    • 34247554965 scopus 로고    scopus 로고
    • Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis
    • COI: 1:CAS:528:DC%2BD2sXksFersbk%3D, PID: 17435756
    • Rioux JD et al (2007) Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 39:596–604
    • (2007) Nat Genet , vol.39 , pp. 596-604
    • Rioux, J.D.1
  • 78
    • 84895510920 scopus 로고    scopus 로고
    • Functional annotation of noncoding sequence variants
    • COI: 1:CAS:528:DC%2BC2cXhs1Shsr8%3D, PID: 24487584
    • Ritchie GR, Dunham I, Zeggini E, Flicek P (2014) Functional annotation of noncoding sequence variants. Nat Methods 11:294–296
    • (2014) Nat Methods , vol.11 , pp. 294-296
    • Ritchie, G.R.1    Dunham, I.2    Zeggini, E.3    Flicek, P.4
  • 79
    • 80054975975 scopus 로고    scopus 로고
    • Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
    • COI: 1:CAS:528:DC%2BC3MXht12hsr%2FN, PID: 21983784
    • Rivas MA et al (2011) Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet 43:1066–1073
    • (2011) Nat Genet , vol.43 , pp. 1066-1073
    • Rivas, M.A.1
  • 80
    • 84929015299 scopus 로고    scopus 로고
    • Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome
    • COI: 1:CAS:528:DC%2BC2MXnslGjtrs%3D, PID: 25954003
    • Rivas MA et al (2015) Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science 348:666–669
    • (2015) Science , vol.348 , pp. 666-669
    • Rivas, M.A.1
  • 82
    • 84868689211 scopus 로고    scopus 로고
    • Atorvastatin with or without an antibody to PCSK9 in primary hypercholesterolemia
    • COI: 1:CAS:528:DC%2BC38XhslKktrzM, PID: 23113833
    • Roth EM, McKenney JM, Hanotin C, Asset G, Stein EA (2012) Atorvastatin with or without an antibody to PCSK9 in primary hypercholesterolemia. N Engl J Med 367:1891–1900
    • (2012) N Engl J Med , vol.367 , pp. 1891-1900
    • Roth, E.M.1    McKenney, J.M.2    Hanotin, C.3    Asset, G.4    Stein, E.A.5
  • 83
    • 84922394049 scopus 로고    scopus 로고
    • A framework for the interpretation of de novo mutation in human disease
    • COI: 1:CAS:528:DC%2BC2cXht1Gqtr%2FK, PID: 25086666
    • Samocha KE et al (2014) A framework for the interpretation of de novo mutation in human disease. Nat Genet 46:944–950
    • (2014) Nat Genet , vol.46 , pp. 944-950
    • Samocha, K.E.1
  • 84
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • COI: 1:CAS:528:DC%2BC38XlslSisr8%3D, PID: 22495306
    • Sanders SJ et al (2012) De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485:237–241
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1
  • 85
    • 84897456458 scopus 로고    scopus 로고
    • MutationTaster2: mutation prediction for the deep-sequencing age
    • COI: 1:CAS:528:DC%2BC2cXltFaisb0%3D, PID: 24681721
    • Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361–362
    • (2014) Nat Methods , vol.11 , pp. 361-362
    • Schwarz, J.M.1    Cooper, D.N.2    Schuelke, M.3    Seelow, D.4
  • 86
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • COI: 1:STN:280:DyaK3s7ptV2rsA%3D%3D, PID: 8447318
    • Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506–516
    • (1993) Am J Hum Genet , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 87
    • 84858638369 scopus 로고    scopus 로고
    • Effect of a monoclonal antibody to PCSK9 on LDL cholesterol
    • COI: 1:CAS:528:DC%2BC38XktlCqtLY%3D, PID: 22435370
    • Stein EA et al (2012) Effect of a monoclonal antibody to PCSK9 on LDL cholesterol. N Engl J Med 366:1108–1118
    • (2012) N Engl J Med , vol.366 , pp. 1108-1118
    • Stein, E.A.1
  • 88
    • 84895858002 scopus 로고    scopus 로고
    • Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
    • COI: 1:CAS:528:DC%2BC2cXht12ju7g%3D, PID: 24464100
    • Steinthorsdottir V et al (2014) Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes. Nat Genet 46:294–298
    • (2014) Nat Genet , vol.46 , pp. 294-298
    • Steinthorsdottir, V.1
  • 89
    • 84867113601 scopus 로고    scopus 로고
    • Inferring causality and functional significance of human coding DNA variants
    • COI: 1:CAS:528:DC%2BC38XhsVartr7E, PID: 22990389
    • Sunyaev SR (2012) Inferring causality and functional significance of human coding DNA variants. Hum Mol Genet 21:R10–R17
    • (2012) Hum Mol Genet , vol.21 , pp. R10-R17
    • Sunyaev, S.R.1
  • 90
    • 84880198559 scopus 로고    scopus 로고
    • MASS: meta-analysis of score statistics for sequencing studies
    • COI: 1:CAS:528:DC%2BC3sXhtVOjsrvK, PID: 23698861
    • Tang ZZ, Lin DY (2013) MASS: meta-analysis of score statistics for sequencing studies. Bioinformatics 29:1803–1805
    • (2013) Bioinformatics , vol.29 , pp. 1803-1805
    • Tang, Z.Z.1    Lin, D.Y.2
  • 91
    • 84902984191 scopus 로고    scopus 로고
    • Meta-analysis of sequencing studies with heterogeneous genetic associations
    • PID: 24799183
    • Tang ZZ, Lin DY (2014) Meta-analysis of sequencing studies with heterogeneous genetic associations. Genet Epidemiol 38:389–401
    • (2014) Genet Epidemiol , vol.38 , pp. 389-401
    • Tang, Z.Z.1    Lin, D.Y.2
  • 92
    • 84937518179 scopus 로고    scopus 로고
    • Meta-analysis for discovering rare-variant associations: statistical methods and software programs
    • COI: 1:CAS:528:DC%2BC2MXhtV2it7vN, PID: 26094574
    • Tang Z-Z, Lin D-Y (2015) Meta-analysis for discovering rare-variant associations: statistical methods and software programs. Am J Hum Genet 97:35–53
    • (2015) Am J Hum Genet , vol.97 , pp. 35-53
    • Tang, Z.-Z.1    Lin, D.-Y.2
  • 93
    • 0026494911 scopus 로고
    • A haplotype-based ‘haplotype relative risk’ approach to detecting allelic associations
    • COI: 1:STN:280:DyaK3s7lsVOgsA%3D%3D, PID: 1493912
    • Terwilliger JD, Ott J (1992) A haplotype-based ‘haplotype relative risk’ approach to detecting allelic associations. Hum Hered 42:337–346
    • (1992) Hum Hered , vol.42 , pp. 337-346
    • Terwilliger, J.D.1    Ott, J.2
  • 94
    • 84943182742 scopus 로고    scopus 로고
    • The UK10K project identifies rare variants in health and disease
    • The UKKC (2015) The UK10K project identifies rare variants in health and disease. Nature 526:82–90
    • (2015) Nature , vol.526 , pp. 82-90
    • The, U.K.K.C.1
  • 95
    • 0016418651 scopus 로고
    • Spontaneous mutation in man
    • Harris H, Hirschhorn K, (eds), Springer US, Boston
    • Vogel F, Rathenberg R (1975) Spontaneous mutation in man. In: Harris H, Hirschhorn K (eds) Advances in human genetics. Springer US, Boston, pp 223–318
    • (1975) Advances in human genetics , pp. 223-318
    • Vogel, F.1    Rathenberg, R.2
  • 96
    • 84891790401 scopus 로고    scopus 로고
    • The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
    • COI: 1:CAS:528:DC%2BC2cXoslOi, PID: 24316577
    • Welter D et al (2014) The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res 42:D1001–D1006
    • (2014) Nucleic Acids Res , vol.42 , pp. D1001-D1006
    • Welter, D.1
  • 97
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • COI: 1:CAS:528:DC%2BC3MXovF2mtLc%3D, PID: 21737059
    • Wu MC et al (2011) Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet 89:82–93
    • (2011) Am J Hum Genet , vol.89 , pp. 82-93
    • Wu, M.C.1
  • 98
    • 84893378179 scopus 로고    scopus 로고
    • Searching for missing heritability: designing rare variant association studies
    • COI: 1:CAS:528:DC%2BC2cXhs1Sntbs%3D, PID: 24443550
    • Zuk O et al (2014) Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci USA 111:E455–E464
    • (2014) Proc Natl Acad Sci USA , vol.111 , pp. E455-E464
    • Zuk, O.1


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