-
1
-
-
84975742565
-
A map of human genome variation from population scale sequencing
-
The 1000 Genomes Project Consortium
-
The 1000 Genomes Project Consortium. 2010. A map of human genome variation from population scale sequencing. Nature 467: 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
2
-
-
69749124820
-
The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group
-
Ahn SM, Kim TH, Lee S, Kim D, Ghang H, Kim DS, Kim BC, Kim SY, Kim WY, Kim C. 2009. The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res 19: 1622-1629.
-
(2009)
Genome Res
, vol.19
, pp. 1622-1629
-
-
Ahn, S.M.1
Kim, T.H.2
Lee, S.3
Kim, D.4
Ghang, H.5
Kim, D.S.6
Kim, B.C.7
Kim, S.Y.8
Kim, W.Y.9
Kim, C.10
-
3
-
-
44849120649
-
Extensive variation between inbred mouse strains due to endogenous L1 retrotransposition
-
DOI 10.1101/gr.075770.107
-
Akagi K, Li J, Stephens RM, Volfovsky N, Symer DE. 2008. Extensive variation between inbred mouse strains due to endogenous L1 retrotransposition. Genome Res 18: 869-880. (Pubitemid 351793059)
-
(2008)
Genome Research
, vol.18
, Issue.6
, pp. 869-880
-
-
Akagi, K.1
Li, J.2
Stephens, R.M.3
Volfovsky, N.4
Symer, D.E.5
-
4
-
-
0037383453
-
ATLAS: A system to selectively identify human-specific L1 insertions
-
DOI 10.1086/373939
-
Badge RM, Alisch RS, Moran JV. 2003. ATLAS: A system to selectively identify human-specific L1 insertions. Am J Hum Genet 72: 823-838. (Pubitemid 36403303)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.4
, pp. 823-838
-
-
Badge, R.M.1
Alisch, R.S.2
Moran, J.V.3
-
5
-
-
77953880842
-
LINE-1 retrotransposition activity in human genomes
-
Beck CR, Collier P, Macfarlane C, Malig M, Kidd JM, Eichler EE, Badge RM, Moran JV. 2010. LINE-1 retrotransposition activity in human genomes. Cell 141: 1159-1170.
-
(2010)
Cell
, vol.141
, pp. 1159-1170
-
-
Beck, C.R.1
Collier, P.2
Macfarlane, C.3
Malig, M.4
Kidd, J.M.5
Eichler, E.E.6
Badge, R.M.7
Moran, J.V.8
-
6
-
-
40449139336
-
Mammalian non-LTR retrotransposons: For better or worse, in sickness and in health
-
DOI 10.1101/gr.5558208
-
Belancio VP, Hedges DJ, Deininger P. 2008. Mammalian non-LTR retrotransposons: For better or worse, in sickness and in health. Genome Res 18: 343-358. (Pubitemid 351347078)
-
(2008)
Genome Research
, vol.18
, Issue.3
, pp. 343-358
-
-
Belancio, V.P.1
Hedges, D.J.2
Deininger, P.3
-
7
-
-
8544229065
-
Natural genetic variation caused by transposable elements in humans
-
DOI 10.1534/genetics.104.031757
-
Bennett EA, Coleman LE, Tsui C, Pittard WS, Devine SE. 2004. Natural genetic variation caused by transposable elements in humans. Genetics 168: 933-951. (Pubitemid 39491469)
-
(2004)
Genetics
, vol.168
, Issue.2
, pp. 933-951
-
-
Bennett, E.A.1
Coleman, L.E.2
Tsui, C.3
Pittard, W.S.4
Devine, S.E.5
-
8
-
-
0037965788
-
Hot L1s account for the bulk of retrotransposition in the human population
-
DOI 10.1073/pnas.0831042100
-
Brouha B, Schustak J, Badge RM, Lutz-Prigge S, Farley AH, Moran JV, Kazazian HH Jr. 2003. Hot L1s account for the bulk of retrotransposition in the human population. Proc Natl Acad Sci 100: 5280-5285. (Pubitemid 36542696)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.9
, pp. 5280-5285
-
-
Brouha, B.1
Schustak, J.2
Badge, R.M.3
Lutz-Prigge, S.4
Farley, A.H.5
Morant, J.V.6
Kazazian Jr., H.H.7
-
9
-
-
70349318211
-
The impact of retrotransposons on human genome evolution
-
Cordaux R, Batzer MA. 2009. The impact of retrotransposons on human genome evolution. Nat Rev Genet 10: 691-703.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 691-703
-
-
Cordaux, R.1
Batzer, M.A.2
-
10
-
-
77955160719
-
High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes
-
Ewing AD, Kazazian HH Jr. 2010. High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes. Genome Res 20: 1262-1270.
-
(2010)
Genome Res
, vol.20
, pp. 1262-1270
-
-
Ewing, A.D.1
Kazazian Jr., H.H.2
-
11
-
-
77954205450
-
Next-generation VariationHunter: Combinatorial algorithms for transposon insertion discovery
-
Hormozdiari F, Hajirasouliha I, Dao P, Hach F, Yorukoglu D, Alkan C, Eichler EE, Sahinalp SC. 2010. Next-generation VariationHunter: Combinatorial algorithms for transposon insertion discovery. Bioinformatics 26: 350-357.
-
(2010)
Bioinformatics
, vol.26
, pp. 350-357
-
-
Hormozdiari, F.1
Hajirasouliha, I.2
Dao, P.3
Hach, F.4
Yorukoglu, D.5
Alkan, C.6
Eichler, E.E.7
Sahinalp, S.C.8
-
12
-
-
77953892366
-
Mobile interspersed repeats are major structural variants in the human genome
-
Huang CR, Schneider AM, Lu Y, Niranjan T, Shen P, Robinson MA, Steranka JP, Valle D, Civin CI, Wang T, et al. 2010. Mobile interspersed repeats are major structural variants in the human genome. Cell 141: 1171-1182.
-
(2010)
Cell
, vol.141
, pp. 1171-1182
-
-
Huang, C.R.1
Schneider, A.M.2
Lu, Y.3
Niranjan, T.4
Shen, P.5
Robinson, M.A.6
Steranka, J.P.7
Valle, D.8
Civin, C.I.9
Wang, T.10
-
13
-
-
77953889472
-
Natural mutagenesis of human genomes by endogenous retrotransposons
-
Iskow RC, McCabe MT, Mills RE, Torene S, Pittard WS, Neuwald AF, Van Meir EG, Vertino PM, Devine SE. 2010. Natural mutagenesis of human genomes by endogenous retrotransposons. Cell 141: 1253-1261.
-
(2010)
Cell
, vol.141
, pp. 1253-1261
-
-
Iskow, R.C.1
McCabe, M.T.2
Mills, R.E.3
Torene, S.4
Pittard, W.S.5
Neuwald, A.F.6
Van Meir, E.G.7
Vertino, P.M.8
Devine, S.E.9
-
14
-
-
39749197456
-
Genotype, haplotype and copy-number variation in worldwide human populations
-
DOI 10.1038/nature06742, PII NATURE06742
-
Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R. 2008. Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451: 998-1003. (Pubitemid 351301742)
-
(2008)
Nature
, vol.451
, Issue.7181
, pp. 998-1003
-
-
Jakobsson, M.1
Scholz, S.W.2
Scheet, P.3
Gibbs, J.R.4
VanLiere, J.M.5
Fung, H.-C.6
Szpiech, Z.A.7
Degnan, J.H.8
Wang, K.9
Guerreiro, R.10
Bras, J.M.11
Schymick, J.C.12
Hernandez, D.G.13
Traynor, B.J.14
Simon-Sanchez, J.15
Matarin, M.16
Britton, A.17
Van De, L.J.18
Rafferty, I.19
Bucan, M.20
Cann, H.M.21
Hardy, J.A.22
Rosenberg, N.A.23
Singleton, A.B.24
more..
-
15
-
-
1542513556
-
Mobile elements: Drivers of genome evolution
-
Kazazian HH Jr. 2004. Mobile elements: Drivers of genome evolution. Science 303: 1626-1632.
-
(2004)
Science
, vol.303
, pp. 1626-1632
-
-
Kazazian Jr., H.H.1
-
16
-
-
33846897374
-
Identification and characterization of novel polymorphic LINE-1 insertions through comparison of two human genome sequence assemblies
-
DOI 10.1016/j.gene.2006.07.040, PII S0378111906005087
-
Konkel MK, Wang J, Liang P, Batzer MA. 2007. Identification and characterization of novel polymorphic LINE-1 insertions through comparison of two human genome sequence assemblies. Gene 390: 28-38. (Pubitemid 46241738)
-
(2007)
Gene
, vol.390
, Issue.1-2
, pp. 28-38
-
-
Konkel, M.K.1
Wang, J.2
Liang, P.3
Batzer, M.A.4
-
17
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander ES, Heaford A, Sheridan A, Linton LM, Birren B, Subramanian A, Coulson A, Nusbaum C, Zody MC, Dunham A, et al. 2001. Initial sequencing and analysis of the human genome. Nature 409: 860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Heaford, A.2
Sheridan, A.3
Linton, L.M.4
Birren, B.5
Subramanian, A.6
Coulson, A.7
Nusbaum, C.8
Zody, M.C.9
Dunham, A.10
-
18
-
-
62349130698
-
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
-
doi: 10.1186/gb-2009-10-3-r25
-
Langmead B, Trapnell C, Pop M, Salzberg SL. 2009. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol 10: R25. doi: 10.1186/gb-2009-10-3-r25.
-
(2009)
Genome Biol
, vol.10
-
-
Langmead, B.1
Trapnell, C.2
Pop, M.3
Salzberg, S.L.4
-
19
-
-
39749139577
-
Proportionally more deleterious genetic variation in European than in African populations
-
DOI 10.1038/nature06611, PII NATURE06611
-
Lohmueller KE, Indap AR, Schmidt S, Boyko AR, Hernandez RD, Hubisz MJ, Sninsky JJ, White TJ, Sunyaev SR, Nielsen R, et al. 2008. Proportionally more deleterious genetic variation in European than in African populations. Nature 451: 994-997. (Pubitemid 351301732)
-
(2008)
Nature
, vol.451
, Issue.7181
, pp. 994-997
-
-
Lohmueller, K.E.1
Indap, A.R.2
Schmidt, S.3
Boyko, A.R.4
Hernandez, R.D.5
Hubisz, M.J.6
Sninsky, J.J.7
White, T.J.8
Sunyaev, S.R.9
Nielsen, R.10
Clark, A.G.11
Bustamante, C.D.12
-
20
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, et al. 2010. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362: 1181-1191.
-
(2010)
N Engl J Med
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Rio Deiros, D.4
Chen, D.C.5
Nazareth, L.6
Bainbridge, M.7
Dinh, H.8
Jing, C.9
Wheeler, D.A.10
-
21
-
-
0036073862
-
A comprehensive analysis of recently integrated human Ta L1 elements
-
DOI 10.1086/341718
-
Myers JS, Vincent BJ, Udall H, Watkins WS, Morrish TA, Kilroy GE, Swergold GD, Henke J, Henke L, Moran JV, et al. 2002. A comprehensive analysis of recently integrated human Ta L1 elements. Am J Hum Genet 71: 312-326. (Pubitemid 34800248)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.2
, pp. 312-326
-
-
Myers, J.S.1
Vincent, B.J.2
Udall, H.3
Watkins, W.S.4
Morrish, T.A.5
Kilroy, G.E.6
Swergold, G.D.7
Henke, J.8
Henke, L.9
Moran, J.V.10
Jorde, L.B.11
Batzer, M.A.12
-
22
-
-
0035208118
-
Twin priming: A proposed mechanism for the creation of inversions in L1 retrotransposition
-
DOI 10.1101/gr.205701
-
Ostertag EM, Kazazian HH Jr. 2001. Twin priming: A proposed mechanism for the creation of inversions in L1 retrotransposition. Genome Res 11: 2059-2065. (Pubitemid 33138803)
-
(2001)
Genome Research
, vol.11
, Issue.12
, pp. 2059-2065
-
-
Ostertag, E.M.1
Kazazian Jr., H.H.2
-
23
-
-
77951860138
-
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome
-
Quinlan AR, Clark RA, Sokolova S, Leibowitz ML, Zhang Y, Hurles ME, Mell JC, Hall IM. 2010. Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome. Genome Res 20: 623-635.
-
(2010)
Genome Res
, vol.20
, pp. 623-635
-
-
Quinlan, A.R.1
Clark, R.A.2
Sokolova, S.3
Leibowitz, M.L.4
Zhang, Y.5
Hurles, M.E.6
Mell, J.C.7
Hall, I.M.8
-
24
-
-
0030903621
-
Many human L1 elements are capable of retrotransposition
-
Sassaman DM, Dombroski BA, Moran JV, Kimberland ML, Naas TP, DeBerardinis RJ, Gabriel A, Swergold GD, Kazazian HH Jr. 1997. Many human L1 elements are capable of retrotransposition. Nat Genet 16: 37-43. (Pubitemid 27198154)
-
(1997)
Nature Genetics
, vol.16
, Issue.1
, pp. 37-43
-
-
Sassaman, D.M.1
Dombroski, B.A.2
Moran, J.V.3
Kimberland, M.L.4
Naas, T.P.5
DeBerardinis, R.J.6
Gabriel, A.7
Swergold, G.D.8
Kazazian Jr., H.H.9
-
25
-
-
77249155642
-
Complete Khoisan and Bantu genomes from southern Africa
-
Schuster SC, Miller W, Ratan A, Tomsho LP, Giardine B, Kasson LR, Harris RS, Petersen DC, Zhao F, Qi J, et al. 2010. Complete Khoisan and Bantu genomes from southern Africa. Nature 463: 943-947.
-
(2010)
Nature
, vol.463
, pp. 943-947
-
-
Schuster, S.C.1
Miller, W.2
Ratan, A.3
Tomsho, L.P.4
Giardine, B.5
Kasson, L.R.6
Harris, R.S.7
Petersen, D.C.8
Zhao, F.9
Qi, J.10
-
26
-
-
33646256347
-
Extensive individual variation in L1 retrotransposition capability contributes to human genetic diversity
-
Seleme MC, Vetter MR, Cordaux R, Bastone L, Batzer MA, Kazazian HH Jr. 2006. Extensive individual variation in L1 retrotransposition capability contributes to human genetic diversity. Proc Natl Acad Sci 103: 8036-8041.
-
(2006)
Proc Natl Acad Sci
, vol.103
, pp. 8036-8041
-
-
Seleme, M.C.1
Vetter, M.R.2
Cordaux, R.3
Bastone, L.4
Batzer, M.A.5
Kazazian Jr., H.H.6
-
27
-
-
0023948714
-
Unit-length line-1 transcripts in human teratocarcinoma cells
-
Skowronski J, Fanning TG, Singer MF. 1988. Unit-length line-1 transcripts in human teratocarcinoma cells. Mol Cell Biol 8: 1385-1397.
-
(1988)
Mol Cell Biol
, vol.8
, pp. 1385-1397
-
-
Skowronski, J.1
Fanning, T.G.2
Singer, M.F.3
-
28
-
-
0036323319
-
Genetic analysis of African populations: Human evolution and complex disease
-
Tishkoff SA, Williams SM. 2002. Genetic analysis of African populations: Human evolution and complex disease. Nat Rev Genet 3: 611-621. (Pubitemid 34827135)
-
(2002)
Nature Reviews Genetics
, vol.3
, Issue.8
, pp. 611-621
-
-
Tishkoff, S.A.1
Williams, S.M.2
-
29
-
-
0042573930
-
Following the LINEs: An analysis of primate genomic variation at human-specific LINE-1 insertion sites
-
Vincent BJ, Myers JS, Ho HJ, Kilroy GE, Walker JA, Watkins WS, Jorde LB, Batzer MA. 2003. Following the LINEs: An analysis of primate genomic variation at human-specific LINE-1 insertion sites. Mol Biol Evol 20: 1333-1348.
-
(2003)
Mol Biol Evol
, vol.20
, pp. 1333-1348
-
-
Vincent, B.J.1
Myers, J.S.2
Ho, H.J.3
Kilroy, G.E.4
Walker, J.A.5
Watkins, W.S.6
Jorde, L.B.7
Batzer, M.A.8
-
30
-
-
33645786590
-
dbRIP: A highly integrated database of retrotransposon insertion polymorphisms in humans
-
Wang J, Song L, Grover D, Azrak S, Batzer MA, Liang P. 2006. dbRIP: A highly integrated database of retrotransposon insertion polymorphisms in humans. Hum Mutat 27: 323-329.
-
(2006)
Hum Mutat
, vol.27
, pp. 323-329
-
-
Wang, J.1
Song, L.2
Grover, D.3
Azrak, S.4
Batzer, M.A.5
Liang, P.6
-
31
-
-
33750165708
-
Human population genetic structure and diversity inferred from polymorphic L1 (LINE-1) and Alu insertions
-
DOI 10.1159/000095851
-
Witherspoon DJ, Marchani EE, Watkins WS, Ostler CT, Wooding SP, Anders BA, Fowlkes JD, Boissinot S, Furano AV, Ray DA, et al. 2006. Human population genetic structure and diversity inferred from polymorphic L1(LINE-1) and Alu insertions. Hum Hered 62: 30-46. (Pubitemid 44597469)
-
(2006)
Human Heredity
, vol.62
, Issue.1
, pp. 30-46
-
-
Witherspoon, D.J.1
Marchani, E.E.2
Watkins, W.S.3
Ostler, C.T.4
Wooding, S.P.5
Anders, B.A.6
Fowlkes, J.D.7
Boissinot, S.8
Furano, A.V.9
Ray, D.A.10
Rogers, A.R.11
Batzer, M.A.12
Jorde, L.B.13
-
32
-
-
77954038084
-
Mobile element scanning (ME-Scan) by targeted high-throughput sequencing
-
doi: 10.1186/1471-2164-11-410
-
Witherspoon DJ, Xing J, Zhang Y, Watkins WS, Batzer MA, Jorde LB. 2010. Mobile element scanning (ME-Scan) by targeted high-throughput sequencing. BMC Genomics 11: 410. doi: 10.1186/1471-2164-11-410.
-
(2010)
BMC Genomics
, vol.11
, pp. 410
-
-
Witherspoon, D.J.1
Xing, J.2
Zhang, Y.3
Watkins, W.S.4
Batzer, M.A.5
Jorde, L.B.6
-
33
-
-
67649982842
-
Mobile elements create structural variation: Analysis of a complete human genome
-
Xing J, Zhang Y, Han K, Salem AH, Sen SK, Huff CD, Zhou Q, Kirkness EF, Levy S, Batzer MA, et al. 2009. Mobile elements create structural variation: analysis of a complete human genome. Genome Res 19: 1516-1526.
-
(2009)
Genome Res
, vol.19
, pp. 1516-1526
-
-
Xing, J.1
Zhang, Y.2
Han, K.3
Salem, A.H.4
Sen, S.K.5
Huff, C.D.6
Zhou, Q.7
Kirkness, E.F.8
Levy, S.9
Batzer, M.A.10
|