메뉴 건너뛰기




Volumn 14, Issue 3, 2018, Pages

Large scale variation in the rate of germ-line de novo mutation, base composition, divergence and diversity in humans

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DNA BASE COMPOSITION; GENE CONVERSION; GENE MUTATION; GERM LINE; HUMAN; HUMAN CELL; HUMAN GENOME; ISOCHORE; MUTATION RATE; PROBABILITY; ANIMAL; GENETIC VARIATION; GERMLINE MUTATION; INFORMATION PROCESSING;

EID: 85044827598     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1007254     Document Type: Article
Times cited : (55)

References (63)
  • 1
    • 80054760378 scopus 로고    scopus 로고
    • Variation in the mutation rate across mammalian genomes
    • 21969038, Epub 2011/10/05
    • Hodgkinson A, Eyre-Walker A, Variation in the mutation rate across mammalian genomes. Nature Reviews Genetics. 2011;12(11):756–66. Epub 2011/10/05. doi: 10.1038/nrg3098 21969038.
    • (2011) Nature Reviews Genetics , vol.12 , Issue.11 , pp. 756-766
    • Hodgkinson, A.1    Eyre-Walker, A.2
  • 2
    • 79959725029 scopus 로고    scopus 로고
    • Variation in genome-wide mutation rates within and between human families
    • 21666693, Epub 2011/06/15. ng.862 [pi
    • Conrad DF, Keebler JE, Depristo MA, Lindsay SJ, Zhang Y, Casals F, et al. Variation in genome-wide mutation rates within and between human families. Nat Genet. 2011;43(7):712–4. Epub 2011/06/15. ng.862 [pii] doi: 10.1038/ng.862 21666693.
    • (2011) Nat Genet , vol.43 , Issue.7 , pp. 712-714
    • Conrad, D.F.1    Keebler, J.E.2    Depristo, M.A.3    Lindsay, S.J.4    Zhang, Y.5    Casals, F.6
  • 3
    • 84937191220 scopus 로고    scopus 로고
    • Genome-wide patterns and properties of de novo mutations in humans
    • 25985141, Epub 2015/05/20.; PubMed Central PMCID: PMC4485564
    • Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, Renkens I, et al. Genome-wide patterns and properties of de novo mutations in humans. Nature genetics. 2015;47(7):822–6. Epub 2015/05/20. doi: 10.1038/ng.3292 25985141; PubMed Central PMCID: PMC4485564.
    • (2015) Nature genetics , vol.47 , Issue.7 , pp. 822-826
    • Francioli, L.C.1    Polak, P.P.2    Koren, A.3    Menelaou, A.4    Chun, S.5    Renkens, I.6
  • 4
    • 84865208871 scopus 로고    scopus 로고
    • Rate of de novo mutations and the importance of father's age to disease risk
    • 22914163, ISI:000307761600028
    • Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature. 2012;488(7412):471–5. doi: 10.1038/nature11396 ISI:000307761600028. 22914163
    • (2012) Nature , vol.488 , Issue.7412 , pp. 471-475
    • Kong, A.1    Frigge, M.L.2    Masson, G.3    Besenbacher, S.4    Sulem, P.5    Magnusson, G.6
  • 5
    • 84871595000 scopus 로고    scopus 로고
    • Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
    • 23260136, Epub 2012/12/25
    • Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell. 2012;151(7):1431–42. Epub 2012/12/25. doi: 10.1016/j.cell.2012.11.019 23260136.
    • (2012) Cell , vol.151 , Issue.7 , pp. 1431-1442
    • Michaelson, J.J.1    Shi, Y.2    Gujral, M.3    Zheng, H.4    Malhotra, D.5    Jin, X.6
  • 6
    • 84955601029 scopus 로고    scopus 로고
    • New observations on maternal age effect on germline de novo mutations
    • 26781218,..;:.; PubMed Central PMCID: PMCPMC4735694
    • Wong WS, Solomon BD, Bodian DL, Kothiyal P, Eley G, Huddleston KC, et al. New observations on maternal age effect on germline de novo mutations. Nat Commun. 2016;7:10486. doi: 10.1038/ncomms10486 26781218; PubMed Central PMCID: PMCPMC4735694.
    • (2016) Nat Commun , vol.7 , pp. 10486
    • Wong, W.S.1    Solomon, B.D.2    Bodian, D.L.3    Kothiyal, P.4    Eley, G.5    Huddleston, K.C.6
  • 7
    • 0000581643 scopus 로고
    • The mutation rate of the gene for haemophilia, and its segregation ratios in males and females
    • 2024986
    • Haldane JB, The mutation rate of the gene for haemophilia, and its segregation ratios in males and females. Annals of eugenics. 1947;13(4):262–71. 20249869.
    • (1947) Annals of eugenics , vol.13 , Issue.4 , pp. 262-271
    • Haldane, J.B.1
  • 8
    • 80054754012 scopus 로고    scopus 로고
    • The large scale distribution of somatic mutations in cancer genomes
    • 2195385
    • Hodgkinson A, Chen Y, Eyre-Walker A, The large scale distribution of somatic mutations in cancer genomes. Human Mutation. 2012;33:136–43. doi: 10.1002/humu.21616 21953857
    • (2012) Human Mutation , vol.33 , pp. 136-143
    • Hodgkinson, A.1    Chen, Y.2    Eyre-Walker, A.3
  • 9
    • 84865248380 scopus 로고    scopus 로고
    • Chromatin organization is a major influence on regional mutation rates in human cancer cells
    • 2282025
    • Schuster-Bockler B, Lehner B, Chromatin organization is a major influence on regional mutation rates in human cancer cells. Nature. 2012;488(7412):504–7. doi: 10.1038/nature11273 22820252.
    • (2012) Nature , vol.488 , Issue.7412 , pp. 504-507
    • Schuster-Bockler, B.1    Lehner, B.2
  • 10
    • 84925615834 scopus 로고    scopus 로고
    • Differential DNA mismatch repair underlies mutation rate variation across the human genome
    • 25707793,; PubMed Central PMCID: PMCPMC4425546
    • Supek F, Lehner B, Differential DNA mismatch repair underlies mutation rate variation across the human genome. Nature. 2015;521(7550):81–4. doi: 10.1038/nature14173 25707793; PubMed Central PMCID: PMCPMC4425546.
    • (2015) Nature , vol.521 , Issue.7550 , pp. 81-84
    • Supek, F.1    Lehner, B.2
  • 11
    • 84866067741 scopus 로고    scopus 로고
    • DNA replication timing and selection shape the landscape of nucleotide variation in cancer genomes
    • 2289312
    • Woo YH, Li W-H, DNA replication timing and selection shape the landscape of nucleotide variation in cancer genomes. Nature Communications. 2012;3:1004. doi: 10.1038/ncomms1982 22893128
    • (2012) Nature Communications , vol.3 , pp. 1004
    • Woo, Y.H.1    Li, W.-H.2
  • 12
    • 84923358817 scopus 로고    scopus 로고
    • Cell-of-origin chromatin organization shapes the mutational landscape of cancer
    • 25693567,; PubMed Central PMCID: PMCPMC4405175
    • Polak P, Karlic R, Koren A, Thurman R, Sandstrom R, Lawrence M, et al. Cell-of-origin chromatin organization shapes the mutational landscape of cancer. Nature. 2015;518(7539):360–4. doi: 10.1038/nature14221 25693567; PubMed Central PMCID: PMCPMC4405175.
    • (2015) Nature , vol.518 , Issue.7539 , pp. 360-364
    • Polak, P.1    Karlic, R.2    Koren, A.3    Thurman, R.4    Sandstrom, R.5    Lawrence, M.6
  • 13
    • 0033991967 scopus 로고    scopus 로고
    • Ischores and the evolutionary genomics of vertebrates
    • 1060789
    • Bernardi G, Ischores and the evolutionary genomics of vertebrates. Gene. 2000;241:3–17. 10607893
    • (2000) Gene , vol.241 , pp. 3-17
    • Bernardi, G.1
  • 14
    • 0024961828 scopus 로고
    • Chromosome localization-dependent compositional bias of point mutations in Alu repetitive sequences
    • 271606
    • Filipski J, Chromosome localization-dependent compositional bias of point mutations in Alu repetitive sequences. J Mol Biol. 1989;206:563–6. 2716062
    • (1989) J Mol Biol , vol.206 , pp. 563-566
    • Filipski, J.1
  • 16
    • 0025797314 scopus 로고
    • Mammalian DNA replication: mutation biases and the mutation rate
    • Wolfe K, Mammalian DNA replication: mutation biases and the mutation rate. Theor Biol. 1991;149:441–51.
    • (1991) Theor Biol , vol.149 , pp. 441-451
    • Wolfe, K.1
  • 17
    • 0024497416 scopus 로고
    • Mutation rates differ among regions of the mammalian genome
    • 291136
    • Wolfe KH, Sharp PM, Li W-H, Mutation rates differ among regions of the mammalian genome. Nature. 1989;337:283–5. doi: 10.1038/337283a0 2911369
    • (1989) Nature , vol.337 , pp. 283-285
    • Wolfe, K.H.1    Sharp, P.M.2    Li, W.-H.3
  • 18
    • 84971264708 scopus 로고    scopus 로고
    • The mutation spectrum in genomic late replication domains shapes mammalian GC content
    • 27085808,; PubMed Central PMCID: PMCPMC4872117
    • Kenigsberg E, Yehuda Y, Marjavaara L, Keszthelyi A, Chabes A, Tanay A, et al. The mutation spectrum in genomic late replication domains shapes mammalian GC content. Nucleic Acids Res. 2016;44(9):4222–32. doi: 10.1093/nar/gkw268 27085808; PubMed Central PMCID: PMCPMC4872117.
    • (2016) Nucleic Acids Res , vol.44 , Issue.9 , pp. 4222-4232
    • Kenigsberg, E.1    Yehuda, Y.2    Marjavaara, L.3    Keszthelyi, A.4    Chabes, A.5    Tanay, A.6
  • 19
    • 0022914759 scopus 로고
    • Compositional constraints and genome evolution
    • 310460
    • Bernardi G, Bernardi G, Compositional constraints and genome evolution. J Mol Evol. 1986;24:1–11. 3104608
    • (1986) J Mol Evol , vol.24 , pp. 1-11
    • Bernardi, G.1    Bernardi, G.2
  • 20
    • 0033018384 scopus 로고    scopus 로고
    • Evidence of selection on silent site base composition in mammals: potential implications for the evolution of isochores and junk DNA
    • 1035390
    • Eyre-Walker A, Evidence of selection on silent site base composition in mammals: potential implications for the evolution of isochores and junk DNA. Genetics. 1999;152:675–83. 10353909
    • (1999) Genetics , vol.152 , pp. 675-683
    • Eyre-Walker, A.1
  • 21
    • 44949198268 scopus 로고    scopus 로고
    • The impact of recombination on nucleotide substitutions in the human genome
    • 18464896,.; ():. Epub 2008/05/10.; PubMed Central PMCID: PMC2346554
    • Duret L, Arndt PF, The impact of recombination on nucleotide substitutions in the human genome. PLoS Genet. 2008;4(5):e1000071. Epub 2008/05/10. doi: 10.1371/journal.pgen.1000071 18464896; PubMed Central PMCID: PMC2346554.
    • (2008) PLoS Genet , vol.4 , Issue.5 , pp. e1000071
    • Duret, L.1    Arndt, P.F.2
  • 22
    • 0027183991 scopus 로고
    • Recombination and mammalian genome evolution
    • Eyre-Walker A, Recombination and mammalian genome evolution. Proc Roy Soc Ser B. 1993;252:237–43.
    • (1993) Proc Roy Soc Ser B , vol.252 , pp. 237-243
    • Eyre-Walker, A.1
  • 23
    • 0024332738 scopus 로고
    • Evolution of chromosome bands: molecular ecology of noncoding DNA
    • 254925
    • Holmquist GP, Evolution of chromosome bands: molecular ecology of noncoding DNA. J Mol Evol. 1989;28:469–86. 2549255
    • (1989) J Mol Evol , vol.28 , pp. 469-486
    • Holmquist, G.P.1
  • 24
    • 2442651458 scopus 로고    scopus 로고
    • Recombination drives the evolution of GC-content in the human genome
    • 14963104, Epub 2004/02/14. msh070 [pi
    • Meunier J, Duret L, Recombination drives the evolution of GC-content in the human genome. Mol Biol Evol. 2004;21(6):984–90. Epub 2004/02/14. doi: 10.1093/molbev/msh070 msh070 [pii]. 14963104.
    • (2004) Mol Biol Evol , vol.21 , Issue.6 , pp. 984-990
    • Meunier, J.1    Duret, L.2
  • 25
    • 0035407214 scopus 로고    scopus 로고
    • The evolution of isochores
    • 1143336
    • Eyre-Walker A, Hurst LD, The evolution of isochores. Nature Rev Genet. 2001;2:549–55. doi: 10.1038/35080577 11433361
    • (2001) Nature Rev Genet , vol.2 , pp. 549-555
    • Eyre-Walker, A.1    Hurst, L.D.2
  • 26
    • 70350236484 scopus 로고    scopus 로고
    • Biased gene conversion and the evolution of mammalian genomic landscapes
    • 19630562,.;: –. Epub 2009/07/28
    • Duret L, Galtier N, Biased gene conversion and the evolution of mammalian genomic landscapes. Annu Rev Genomics Hum Genet. 2009;10:285–311. Epub 2009/07/28. doi: 10.1146/annurev-genom-082908-150001 19630562.
    • (2009) Annu Rev Genomics Hum Genet , vol.10 , pp. 285-311
    • Duret, L.1    Galtier, N.2
  • 27
    • 84938840373 scopus 로고    scopus 로고
    • Quantification of GC-biased gene conversion in the human genome
    • 25995268,; PubMed Central PMCID: PMCPMC4510005
    • Glemin S, Arndt PF, Messer PW, Petrov D, Galtier N, Duret L, Quantification of GC-biased gene conversion in the human genome. Genome Res. 2015;25(8):1215–28. doi: 10.1101/gr.185488.114 25995268; PubMed Central PMCID: PMCPMC4510005.
    • (2015) Genome Res , vol.25 , Issue.8 , pp. 1215-1228
    • Glemin, S.1    Arndt, P.F.2    Messer, P.W.3    Petrov, D.4    Galtier, N.5    Duret, L.6
  • 28
    • 84856383378 scopus 로고    scopus 로고
    • Ongoing GC-biased evolution is widespread in the human genome and enriched near recombination hot spots
    • 21697099,.;: –.; PubMed Central PMCID: PMCPMC3157837
    • Katzman S, Capra JA, Haussler D, Pollard KS, Ongoing GC-biased evolution is widespread in the human genome and enriched near recombination hot spots. Genome Biol Evol. 2011;3:614–26. doi: 10.1093/gbe/evr058 21697099; PubMed Central PMCID: PMCPMC3157837.
    • (2011) Genome Biol Evol , vol.3 , pp. 614-626
    • Katzman, S.1    Capra, J.A.2    Haussler, D.3    Pollard, K.S.4
  • 29
    • 67149096366 scopus 로고    scopus 로고
    • Widespread genomic signatures of natural selection in hominid evolution
    • 19424416,.; ():. Epub 2009/05/09.; PubMed Central PMCID: PMC2669884
    • McVicker G, Gordon D, Davis C, Green P, Widespread genomic signatures of natural selection in hominid evolution. PLoS Genet. 2009;5(5):e1000471. Epub 2009/05/09. doi: 10.1371/journal.pgen.1000471 19424416; PubMed Central PMCID: PMC2669884.
    • (2009) PLoS Genet , vol.5 , Issue.5 , pp. e1000471
    • McVicker, G.1    Gordon, D.2    Davis, C.3    Green, P.4
  • 30
    • 84984904343 scopus 로고    scopus 로고
    • Determining the Effect of Natural Selection on Linked Neutral Divergence across Species
    • 27508305,.; ():.; PubMed Central PMCID: PMCPMC4980041
    • Phung TN, Huber CD, Lohmueller KE, Determining the Effect of Natural Selection on Linked Neutral Divergence across Species. PLoS Genet. 2016;12(8):e1006199. doi: 10.1371/journal.pgen.1006199 27508305; PubMed Central PMCID: PMCPMC4980041.
    • (2016) PLoS Genet , vol.12 , Issue.8 , pp. e1006199
    • Phung, T.N.1    Huber, C.D.2    Lohmueller, K.E.3
  • 31
    • 0038015586 scopus 로고    scopus 로고
    • A neutral explanation for the correlation of diversity with recombination rates in humans
    • 12740762, Epub 2003/05/13. S0002-9297(07)60451-0 PubMed Central PMCID: PMC1180312
    • Hellmann I, Ebersberger I, Ptak SE, Paabo S, Przeworski M, A neutral explanation for the correlation of diversity with recombination rates in humans. Am J Hum Genet. 2003;72(6):1527–35. Epub 2003/05/13. S0002-9297(07)60451-0 [pii] doi: 10.1086/375657 12740762; PubMed Central PMCID: PMC1180312.
    • (2003) Am J Hum Genet , vol.72 , Issue.6 , pp. 1527-1535
    • Hellmann, I.1    Ebersberger, I.2    Ptak, S.E.3    Paabo, S.4    Przeworski, M.5
  • 32
    • 24344455529 scopus 로고    scopus 로고
    • Why do human diversity levels vary at a megabase scale?
    • 16140990, Epub 2005/09/06. 15/9/1222 PubMed Central PMCID: PMC1199536
    • Hellmann I, Prufer K, Ji H, Zody MC, Paabo S, Ptak SE, Why do human diversity levels vary at a megabase scale?Genome Res. 2005;15(9):1222–31. Epub 2005/09/06. 15/9/1222 [pii] doi: 10.1101/gr.3461105 16140990; PubMed Central PMCID: PMC1199536.
    • (2005) Genome Res , vol.15 , Issue.9 , pp. 1222-1231
    • Hellmann, I.1    Prufer, K.2    Ji, H.3    Zody, M.C.4    Paabo, S.5    Ptak, S.E.6
  • 33
    • 0036640951 scopus 로고    scopus 로고
    • Human SNP variability and mutation rate are higher in regions of high recombination
    • 12127766, Epub 2002/07/20. S0168952502026690 [pi
    • Lercher MJ, Hurst LD, Human SNP variability and mutation rate are higher in regions of high recombination. Trends Genet. 2002;18(7):337–40. Epub 2002/07/20. S0168952502026690 [pii]. 12127766.
    • (2002) Trends Genet , vol.18 , Issue.7 , pp. 337-340
    • Lercher, M.J.1    Hurst, L.D.2
  • 34
    • 84923164527 scopus 로고    scopus 로고
    • Crossovers are associated with mutation and biased gene conversion at recombination hotspots
    • 25646453,; PubMed Central PMCID: PMCPMC4343121
    • Arbeithuber B, Betancourt AJ, Ebner T, Tiemann-Boege I, Crossovers are associated with mutation and biased gene conversion at recombination hotspots. Proc Natl Acad Sci U S A. 2015;112(7):2109–14. doi: 10.1073/pnas.1416622112 25646453; PubMed Central PMCID: PMCPMC4343121.
    • (2015) Proc Natl Acad Sci U S A , vol.112 , Issue.7 , pp. 2109-2114
    • Arbeithuber, B.1    Betancourt, A.J.2    Ebner, T.3    Tiemann-Boege, I.4
  • 35
    • 84911431761 scopus 로고    scopus 로고
    • DNA recombination. Recombination initiation maps of individual human genomes
    • 2539554
    • Pratto F, Brick K, Khil P, Smagulova F, Petukhova GV, Camerini-Otero RD, DNA recombination. Recombination initiation maps of individual human genomes. Science. 2014;346(6211):1256442. doi: 10.1126/science.1256442 25395542.
    • (2014) Science , vol.346 , Issue.6211 , pp. 1256442
    • Pratto, F.1    Brick, K.2    Khil, P.3    Smagulova, F.4    Petukhova, G.V.5    Camerini-Otero, R.D.6
  • 36
    • 85032438064 scopus 로고    scopus 로고
    • Parental influence on human germline de novo mutations in 1,548 trios from Iceland
    • 2895996
    • Jonsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, et al. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. Nature. 2017;549(7673):519–22. doi: 10.1038/nature24018 28959963.
    • (2017) Nature , vol.549 , Issue.7673 , pp. 519-522
    • Jonsson, H.1    Sulem, P.2    Kehr, B.3    Kristmundsdottir, S.4    Zink, F.5    Hjartarson, E.6
  • 37
    • 84907444273 scopus 로고    scopus 로고
    • How Much of the Variation in the Mutation Rate Along the Human Genome Can Be Explained?
    • 24996580, ISI:000342570600011
    • Eyre-Walker A, Eyre-Walker YC, How Much of the Variation in the Mutation Rate Along the Human Genome Can Be Explained?G3-Genes Genom Genet. 2014;4(9):1667–70. doi: 10.1534/G3.114.012849 ISI:000342570600011. 24996580
    • (2014) G3-Genes Genom Genet , vol.4 , Issue.9 , pp. 1667-1670
    • Eyre-Walker, A.1    Eyre-Walker, Y.C.2
  • 38
    • 84995579243 scopus 로고    scopus 로고
    • Human Germline Mutation and the Erratic Evolutionary Clock
    • 27760127,.; ():.; PubMed Central PMCID: PMCPMC5070741
    • Moorjani P, Gao Z, Przeworski M, Human Germline Mutation and the Erratic Evolutionary Clock. PLoS Biol. 2016;14(10):e2000744. doi: 10.1371/journal.pbio.2000744 27760127; PubMed Central PMCID: PMCPMC5070741.
    • (2016) PLoS Biol , vol.14 , Issue.10 , pp. e2000744
    • Moorjani, P.1    Gao, Z.2    Przeworski, M.3
  • 39
    • 84925264691 scopus 로고    scopus 로고
    • Evidence for recent, population-specific evolution of the human mutation rate
    • 25733855,; PubMed Central PMCID: PMCPMC4371947
    • Harris K, Evidence for recent, population-specific evolution of the human mutation rate. Proc Natl Acad Sci U S A. 2015;112(11):3439–44. doi: 10.1073/pnas.1418652112 25733855; PubMed Central PMCID: PMCPMC4371947.
    • (2015) Proc Natl Acad Sci U S A , vol.112 , Issue.11 , pp. 3439-3444
    • Harris, K.1
  • 40
    • 84958093480 scopus 로고    scopus 로고
    • An expanded sequence context model broadly explains variability in polymorphism levels across the human genome
    • 26878723,.; (): –+. WOS:000372908800005
    • Aggarwala V, Voight BF, An expanded sequence context model broadly explains variability in polymorphism levels across the human genome. Nature Genetics. 2016;48(4):349–+. doi: 10.1038/ng.3511 WOS:000372908800005. 26878723
    • (2016) Nature Genetics , vol.48 , Issue.4 , pp. 349
    • Aggarwala, V.1    Voight, B.F.2
  • 41
    • 47149088853 scopus 로고    scopus 로고
    • Human-macaque comparisons illuminate variation in neutral substitution rates
    • 18447906,.; ():. Epub 2008/05/02. gb-2008-9-4-r76 PubMed Central PMCID: PMC2643947
    • Tyekucheva S, Makova KD, Karro JE, Hardison RC, Miller W, Chiaromonte F, Human-macaque comparisons illuminate variation in neutral substitution rates. Genome Biol. 2008;9(4):R76. Epub 2008/05/02. gb-2008-9-4-r76 [pii] doi: 10.1186/gb-2008-9-4-r76 18447906; PubMed Central PMCID: PMC2643947.
    • (2008) Genome Biol , vol.9 , Issue.4 , pp. R76
    • Tyekucheva, S.1    Makova, K.D.2    Karro, J.E.3    Hardison, R.C.4    Miller, W.5    Chiaromonte, F.6
  • 42
    • 84890509144 scopus 로고    scopus 로고
    • The influence of genomic context on mutation patterns in the human genome inferred from rare variants
    • 23990608,; PubMed Central PMCID: PMCPMC3847768
    • Schaibley VM, Zawistowski M, Wegmann D, Ehm MG, Nelson MR, St Jean PL, et al. The influence of genomic context on mutation patterns in the human genome inferred from rare variants. Genome Res. 2013;23(12):1974–84. doi: 10.1101/gr.154971.113 23990608; PubMed Central PMCID: PMCPMC3847768.
    • (2013) Genome Res , vol.23 , Issue.12 , pp. 1974-1984
    • Schaibley, V.M.1    Zawistowski, M.2    Wegmann, D.3    Ehm, M.G.4    Nelson, M.R.5    St Jean, P.L.6
  • 43
    • 0036372452 scopus 로고    scopus 로고
    • Scoring pairwise genomic sequence alignments
    • 1192846
    • Chiaromonte F, Yap VB, Miller W, Scoring pairwise genomic sequence alignments. Pac Symp Biocomput. 2002:115–26. 11928468.
    • (2002) Pac Symp Biocomput , pp. 115-126
    • Chiaromonte, F.1    Yap, V.B.2    Miller, W.3
  • 44
    • 1542748076 scopus 로고    scopus 로고
    • Aligning multiple genomic sequences with the threaded blockset aligner
    • 15060014,; PubMed Central PMCID: PMCPMC383317
    • Blanchette M, Kent WJ, Riemer C, Elnitski L, Smit AF, Roskin KM, et al. Aligning multiple genomic sequences with the threaded blockset aligner. Genome Res. 2004;14(4):708–15. doi: 10.1101/gr.1933104 15060014; PubMed Central PMCID: PMCPMC383317.
    • (2004) Genome Res , vol.14 , Issue.4 , pp. 708-715
    • Blanchette, M.1    Kent, W.J.2    Riemer, C.3    Elnitski, L.4    Smit, A.F.5    Roskin, K.M.6
  • 45
    • 54949108148 scopus 로고    scopus 로고
    • Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs
    • 18849524,; PubMed Central PMCID: PMCPMC2577869
    • Paten B, Herrero J, Beal K, Fitzgerald S, Birney E, Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs. Genome Res. 2008;18(11):1814–28. doi: 10.1101/gr.076554.108 18849524; PubMed Central PMCID: PMCPMC2577869.
    • (2008) Genome Res , vol.18 , Issue.11 , pp. 1814-1828
    • Paten, B.1    Herrero, J.2    Beal, K.3    Fitzgerald, S.4    Birney, E.5
  • 46
    • 85019959276 scopus 로고    scopus 로고
    • Rapid evolution of the human mutation spectrum
    • 2844022
    • Harris K, Pritchard JK, Rapid evolution of the human mutation spectrum. eLife. 2017;6:e24284. doi: 10.7554/eLife.24284 28440220
    • (2017) eLife , vol.6 , pp. e24284
    • Harris, K.1    Pritchard, J.K.2
  • 47
    • 85011371496 scopus 로고    scopus 로고
    • Inference of Candidate Germline Mutator Loci in Humans from Genome-Wide Haplotype Data
    • 28095480,.; ():.; PubMed Central PMCID: PMCPMC5283766
    • Seoighe C, Scally A, Inference of Candidate Germline Mutator Loci in Humans from Genome-Wide Haplotype Data. PLoS Genet. 2017;13(1):e1006549. doi: 10.1371/journal.pgen.1006549 28095480; PubMed Central PMCID: PMCPMC5283766.
    • (2017) PLoS Genet , vol.13 , Issue.1 , pp. e1006549
    • Seoighe, C.1    Scally, A.2
  • 49
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • 20981092, Epub 2010/10/29. nature09534 PubMed Central PMCID: PMC3042601
    • 1000_Genomes_Project_ConsortiumA map of human genome variation from population-scale sequencing. Nature. 2010;467(7319):1061–73. Epub 2010/10/29. nature09534 [pii] doi: 10.1038/nature09534 20981092; PubMed Central PMCID: PMC3042601.
    • (2010) Nature , vol.467 , Issue.7319 , pp. 1061-1073
  • 50
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • 23128226, ISI:000310434500030
    • 1000_Genomes_Project_ConsortiumAn integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56–65. doi: 10.1038/nature11632 ISI:000310434500030. 23128226
    • (2012) Nature , vol.491 , Issue.7422 , pp. 56-65
  • 51
    • 85000659045 scopus 로고    scopus 로고
    • Multi-nucleotide de novo Mutations in Humans
    • 27846220,..; ():.; PubMed Central PMCID: PMCPMC5147774
    • Besenbacher S, Sulem P, Helgason A, Helgason H, Kristjansson H, Jonasdottir A, et al. Multi-nucleotide de novo Mutations in Humans. PLoS Genet. 2016;12(11):e1006315. doi: 10.1371/journal.pgen.1006315 27846220; PubMed Central PMCID: PMCPMC5147774.
    • (2016) PLoS Genet , vol.12 , Issue.11 , pp. e1006315
    • Besenbacher, S.1    Sulem, P.2    Helgason, A.3    Helgason, H.4    Kristjansson, H.5    Jonasdottir, A.6
  • 52
    • 84899618905 scopus 로고    scopus 로고
    • Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing
    • 24728327,..; ():.; PubMed Central PMCID: PMCPMC3984285
    • Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, et al. Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554 24728327; PubMed Central PMCID: PMCPMC3984285.
    • (2014) PLoS One , vol.9 , Issue.4 , pp. e94554
    • Bodian, D.L.1    McCutcheon, J.N.2    Kothiyal, P.3    Huddleston, K.C.4    Iyer, R.K.5    Vockley, J.G.6
  • 53
    • 52649157765 scopus 로고    scopus 로고
    • Substantial biases in ultra-short read data sets from high-throughput DNA sequencing
    • 18660515,.; ():. Epub 2008/07/29. gkn425 PubMed Central PMCID: PMC2532726
    • Dohm JC, Lottaz C, Borodina T, Himmelbauer H, Substantial biases in ultra-short read data sets from high-throughput DNA sequencing. Nucleic Acids Res. 2008;36(16):e105. Epub 2008/07/29. gkn425 [pii] doi: 10.1093/nar/gkn425 18660515; PubMed Central PMCID: PMC2532726.
    • (2008) Nucleic Acids Res , vol.36 , Issue.16 , pp. e105
    • Dohm, J.C.1    Lottaz, C.2    Borodina, T.3    Himmelbauer, H.4
  • 54
    • 84861548193 scopus 로고    scopus 로고
    • Summarizing and correcting the GC content bias in high-throughput sequencing
    • 22323520,.; ():.; PubMed Central PMCID: PMCPMC3378858
    • Benjamini Y, Speed TP, Summarizing and correcting the GC content bias in high-throughput sequencing. Nucleic Acids Res. 2012;40(10):e72. doi: 10.1093/nar/gks001 22323520; PubMed Central PMCID: PMCPMC3378858.
    • (2012) Nucleic Acids Res , vol.40 , Issue.10 , pp. e72
    • Benjamini, Y.1    Speed, T.P.2
  • 55
    • 59249100200 scopus 로고    scopus 로고
    • Pervasive hitchhiking at coding and regulatory sites in humans
    • 19148272,.; ():.; PubMed Central PMCID: PMCPMC2613029
    • Cai JJ, Macpherson JM, Sella G, Petrov DA, Pervasive hitchhiking at coding and regulatory sites in humans. PLoS Genet. 2009;5(1):e1000336. doi: 10.1371/journal.pgen.1000336 19148272; PubMed Central PMCID: PMCPMC2613029.
    • (2009) PLoS Genet , vol.5 , Issue.1 , pp. e1000336
    • Cai, J.J.1    Macpherson, J.M.2    Sella, G.3    Petrov, D.A.4
  • 56
    • 80055095261 scopus 로고    scopus 로고
    • Natural selection affects multiple aspects of genetic variation at putatively neutral sites across the human genome
    • 22022285,..; ():.; PubMed Central PMCID: PMCPMC3192825
    • Lohmueller KE, Albrechtsen A, Li Y, Kim SY, Korneliussen T, Vinckenbosch N, et al. Natural selection affects multiple aspects of genetic variation at putatively neutral sites across the human genome. PLoS Genet. 2011;7(10):e1002326. doi: 10.1371/journal.pgen.1002326 22022285; PubMed Central PMCID: PMCPMC3192825.
    • (2011) PLoS Genet , vol.7 , Issue.10 , pp. e1002326
    • Lohmueller, K.E.1    Albrechtsen, A.2    Li, Y.3    Kim, S.Y.4    Korneliussen, T.5    Vinckenbosch, N.6
  • 57
    • 0035451450 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms and recombination rate in humans
    • 1152581
    • Nachman MW, Single nucleotide polymorphisms and recombination rate in humans. Trends Genet. 2001;17(9):481–5. 11525814.
    • (2001) Trends Genet , vol.17 , Issue.9 , pp. 481-485
    • Nachman, M.W.1
  • 58
    • 49749142953 scopus 로고    scopus 로고
    • Estimation of hominoid ancestral population sizes under bayesian coalescent models incorporating mutation rate variation and sequencing errors
    • 18603620, Epub 2008/07/08. msn148 [pi
    • Burgess R, Yang Z, Estimation of hominoid ancestral population sizes under bayesian coalescent models incorporating mutation rate variation and sequencing errors. Mol Biol Evol. 2008;25(9):1979–94. Epub 2008/07/08. msn148 [pii] doi: 10.1093/molbev/msn148 18603620.
    • (2008) Mol Biol Evol , vol.25 , Issue.9 , pp. 1979-1994
    • Burgess, R.1    Yang, Z.2
  • 59
    • 83455243192 scopus 로고    scopus 로고
    • Quantifying the variation in the effective population size within a genome
    • 21954163, Epub 2011/09/29.; PubMed Central PMCID: PMC3241429
    • Gossmann TI, Woolfit M, Eyre-Walker A, Quantifying the variation in the effective population size within a genome. Genetics. 2011;189(4):1389–402. Epub 2011/09/29. doi: 10.1534/genetics.111.132654 21954163; PubMed Central PMCID: PMC3241429.
    • (2011) Genetics , vol.189 , Issue.4 , pp. 1389-1402
    • Gossmann, T.I.1    Woolfit, M.2    Eyre-Walker, A.3
  • 61
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • 2295561
    • TEP C, An integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489:57–74. doi: 10.1038/nature11247 22955616
    • (2012) Nature , vol.489 , pp. 57-74
    • Tep, C.1
  • 62
    • 34250376064 scopus 로고    scopus 로고
    • Identification of higher-order functional domains in the human ENCODE regions
    • 17568007,; PubMed Central PMCID: PMCPMC1891350
    • Thurman RE, Day N, Noble WS, Stamatoyannopoulos JA, Identification of higher-order functional domains in the human ENCODE regions. Genome Res. 2007;17(6):917–27. doi: 10.1101/gr.6081407 17568007; PubMed Central PMCID: PMCPMC1891350.
    • (2007) Genome Res , vol.17 , Issue.6 , pp. 917-927
    • Thurman, R.E.1    Day, N.2    Noble, W.S.3    Stamatoyannopoulos, J.A.4
  • 63
    • 76349123622 scopus 로고    scopus 로고
    • Sequencing newly replicated DNA reveals widespread plasticity in human replication timing
    • 19966280, Epub 2009/12/08.; PubMed Central PMCID: PMC2806781
    • Hansen RS, Thomas S, Sandstrom R, Canfield TK, Thurman RE, Weaver M, et al. Sequencing newly replicated DNA reveals widespread plasticity in human replication timing. P Natl Acad Sci USA. 2010;107(1):139–44. Epub 2009/12/08. doi: 10.1073/pnas.0912402107 19966280; PubMed Central PMCID: PMC2806781.
    • (2010) P Natl Acad Sci USA , vol.107 , Issue.1 , pp. 139-144
    • Hansen, R.S.1    Thomas, S.2    Sandstrom, R.3    Canfield, T.K.4    Thurman, R.E.5    Weaver, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.