-
1
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W. Initial sequencing and analysis of the human genome. Nature 2001, 409:860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
Devon, K.7
Dewar, K.8
Doyle, M.9
FitzHugh, W.10
-
2
-
-
0035895505
-
The sequence of the human genome
-
Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA. The sequence of the human genome. Science 2001, 291:1304-1351.
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
Li, P.W.4
Mural, R.J.5
Sutton, G.G.6
Smith, H.O.7
Yandell, M.8
Evans, C.A.9
Holt, R.A.10
-
3
-
-
1842684068
-
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
-
Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature 2004, 428:493-521.
-
(2004)
Nature
, vol.428
, pp. 493-521
-
-
Gibbs, R.A.1
Weinstock, G.M.2
Metzker, M.L.3
Muzny, D.M.4
Sodergren, E.J.5
Scherer, S.6
Scott, G.7
Steffen, D.8
Worley, K.C.9
Burch, P.E.10
-
4
-
-
1542563409
-
Initial sequencing and comparative analysis of the mouse genome
-
Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P. Initial sequencing and comparative analysis of the mouse genome. Nature 2002, 420:520-562.
-
(2002)
Nature
, vol.420
, pp. 520-562
-
-
Waterston, R.H.1
Lindblad-Toh, K.2
Birney, E.3
Rogers, J.4
Abril, J.F.5
Agarwal, P.6
Agarwala, R.7
Ainscough, R.8
Alexandersson, M.9
An, P.10
-
5
-
-
7244245762
-
Finishing the euchromatic sequence of the human genome
-
Finishing the euchromatic sequence of the human genome. Nature 2004, 431:931-945.
-
(2004)
Nature
, vol.431
, pp. 931-945
-
-
-
6
-
-
66249148986
-
Lineage-specific biology revealed by a finished genome assembly of the mouse
-
Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M. Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol 2009, 7:e1000112.
-
(2009)
PLoS Biol
, vol.7
-
-
Church, D.M.1
Goodstadt, L.2
Hillier, L.W.3
Zody, M.C.4
Goldstein, S.5
She, X.6
Bult, C.J.7
Agarwala, R.8
Cherry, J.L.9
DiCuccio, M.10
-
7
-
-
70349318211
-
The impact of retrotransposons on human genome evolution
-
Cordaux R, Batzer MA. The impact of retrotransposons on human genome evolution. Nat Rev Genet 2009, 10:691-703.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 691-703
-
-
Cordaux, R.1
Batzer, M.A.2
-
8
-
-
80052150179
-
Origins of the E. coli strain causing an outbreak of hemolytic-uremic syndrome in Germany
-
Rasko DA, Webster DR, Sahl JW, Bashir A, Boisen N, Scheutz F, Paxinos EE, Sebra R, Chin CS, Iliopoulos D. Origins of the E. coli strain causing an outbreak of hemolytic-uremic syndrome in Germany. N Engl J Med 2011, 365:709-717.
-
(2011)
N Engl J Med
, vol.365
, pp. 709-717
-
-
Rasko, D.A.1
Webster, D.R.2
Sahl, J.W.3
Bashir, A.4
Boisen, N.5
Scheutz, F.6
Paxinos, E.E.7
Sebra, R.8
Chin, C.S.9
Iliopoulos, D.10
-
9
-
-
4544318512
-
A microfluidic system for large DNA molecule arrays
-
Dimalanta ET, Lim A, Runnheim R, Lamers C, Churas C, Forrest DK, de Pablo JJ, Graham MD, Coppersmith SN, Goldstein S. A microfluidic system for large DNA molecule arrays. Anal Chem 2004, 76:5293-5301.
-
(2004)
Anal Chem
, vol.76
, pp. 5293-5301
-
-
Dimalanta, E.T.1
Lim, A.2
Runnheim, R.3
Lamers, C.4
Churas, C.5
Forrest, D.K.6
de Pablo, J.J.7
Graham, M.D.8
Coppersmith, S.N.9
Goldstein, S.10
-
10
-
-
77954648699
-
High-resolution human genome structure by single-molecule analysis
-
Teague B, Waterman MS, Goldstein S, Potamousis K, Zhou S, Reslewic S, Sarkar D, Valouev A, Churas C, Kidd JM. High-resolution human genome structure by single-molecule analysis. Proc Natl Acad Sci U S A 2010, 107:10848-10853.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 10848-10853
-
-
Teague, B.1
Waterman, M.S.2
Goldstein, S.3
Potamousis, K.4
Zhou, S.5
Reslewic, S.6
Sarkar, D.7
Valouev, A.8
Churas, C.9
Kidd, J.M.10
-
11
-
-
73649103712
-
A single molecule scaffold for the maize genome
-
Zhou S, Wei F, Nguyen J, Bechner M, Potamousis K, Goldstein S, Pape L, Mehan MR, Churas C, Pasternak S. A single molecule scaffold for the maize genome. PLoS Genet 2009, 5:e1000711.
-
(2009)
PLoS Genet
, vol.5
-
-
Zhou, S.1
Wei, F.2
Nguyen, J.3
Bechner, M.4
Potamousis, K.5
Goldstein, S.6
Pape, L.7
Mehan, M.R.8
Churas, C.9
Pasternak, S.10
-
12
-
-
80051732262
-
Accurate and comprehensive sequencing of personal genomes
-
Ajay SS, Parker SC, Ozel Abaan H, Fuentes Fajardo KV, Margulies EH. Accurate and comprehensive sequencing of personal genomes. Genome Res 2011, 21:1498-1505.
-
(2011)
Genome Res
, vol.21
, pp. 1498-1505
-
-
Ajay, S.S.1
Parker, S.C.2
Ozel Abaan, H.3
Fuentes Fajardo, K.V.4
Margulies, E.H.5
-
13
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, Simons JF, Kim PM, Palejev D, Carriero NJ, Du L. Paired-end mapping reveals extensive structural variation in the human genome. Science 2007, 318:420-426.
-
(2007)
Science
, vol.318
, pp. 420-426
-
-
Korbel, J.O.1
Urban, A.E.2
Affourtit, J.P.3
Godwin, B.4
Grubert, F.5
Simons, J.F.6
Kim, P.M.7
Palejev, D.8
Carriero, N.J.9
Du, L.10
-
14
-
-
83855165105
-
Repetitive DNA and next-generation sequencing: computational challenges and solutions
-
Treangen TJ, Salzberg SL. Repetitive DNA and next-generation sequencing: computational challenges and solutions. Nat Rev Genet 2012, 13:36-46.
-
(2012)
Nat Rev Genet
, vol.13
, pp. 36-46
-
-
Treangen, T.J.1
Salzberg, S.L.2
-
15
-
-
79961007031
-
CREST maps somatic structural variation in cancer genomes with base-pair resolution
-
Wang J, Mullighan CG, Easton J, Roberts S, Heatley SL, Ma J, Rusch MC, Chen K, Harris CC, Ding L. CREST maps somatic structural variation in cancer genomes with base-pair resolution. Nat Methods 2011, 8:652-654.
-
(2011)
Nat Methods
, vol.8
, pp. 652-654
-
-
Wang, J.1
Mullighan, C.G.2
Easton, J.3
Roberts, S.4
Heatley, S.L.5
Ma, J.6
Rusch, M.C.7
Chen, K.8
Harris, C.C.9
Ding, L.10
-
16
-
-
79952178131
-
High-quality draft assemblies of mammalian genomes from massively parallel sequence data
-
Gnerre S, Maccallum I, Przybylski D, Ribeiro FJ, Burton JN, Walker BJ, Sharpe T, Hall G, Shea TP, Sykes S. High-quality draft assemblies of mammalian genomes from massively parallel sequence data. Proc Natl Acad Sci U S A 2011, 108:1513-1518.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 1513-1518
-
-
Gnerre, S.1
Maccallum, I.2
Przybylski, D.3
Ribeiro, F.J.4
Burton, J.N.5
Walker, B.J.6
Sharpe, T.7
Hall, G.8
Shea, T.P.9
Sykes, S.10
-
17
-
-
79955555195
-
Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes
-
Hillmer AM, Yao F, Inaki K, Lee WH, Ariyaratne PN, Teo AS, Woo XY, Zhang Z, Zhao H, Ukil L. Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes. Genome Res 2011, 21:665-675.
-
(2011)
Genome Res
, vol.21
, pp. 665-675
-
-
Hillmer, A.M.1
Yao, F.2
Inaki, K.3
Lee, W.H.4
Ariyaratne, P.N.5
Teo, A.S.6
Woo, X.Y.7
Zhang, Z.8
Zhao, H.9
Ukil, L.10
-
18
-
-
84855481366
-
Generation of long insert pairs using a Cre-LoxP Inverse PCR approach
-
Peng Z, Zhao Z, Nath N, Froula JL, Clum A, Zhang T, Cheng JF, Copeland AC, Pennacchio LA, Chen F. Generation of long insert pairs using a Cre-LoxP Inverse PCR approach. PLoS One 2012, 7:e29437.
-
(2012)
PLoS One
, vol.7
-
-
Peng, Z.1
Zhao, Z.2
Nath, N.3
Froula, J.L.4
Clum, A.5
Zhang, T.6
Cheng, J.F.7
Copeland, A.C.8
Pennacchio, L.A.9
Chen, F.10
-
19
-
-
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. Complete Khoisan and Bantu genomes from southern Africa. Nature 2010, 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
-
20
-
-
84856382664
-
Long-range massively parallel mate pair sequencing detects distinct mutations and similar patterns of structural mutability in two breast cancer cell lines
-
Hampton OA, Miller CA, Koriabine M, Li J, Den Hollander P, Carbone L, Nefedov M, Ten Hallers BF, Lee AV, De Jong PJ. Long-range massively parallel mate pair sequencing detects distinct mutations and similar patterns of structural mutability in two breast cancer cell lines. Cancer Genet 2011, 204:447-457.
-
(2011)
Cancer Genet
, vol.204
, pp. 447-457
-
-
Hampton, O.A.1
Miller, C.A.2
Koriabine, M.3
Li, J.4
Den Hollander, P.5
Carbone, L.6
Nefedov, M.7
Ten Hallers, B.F.8
Lee, A.V.9
De Jong, P.J.10
-
21
-
-
84868313082
-
Paired-end sequencing of Fosmid libraries by Illumina
-
Williams LJ, Tabbaa DG, Li N, Berlin AM, Shea TP, Maccallum I, Lawrence MS, Drier Y, Getz G, Young SK. Paired-end sequencing of Fosmid libraries by Illumina. Genome Res 2012, 22:2241-2249.
-
(2012)
Genome Res
, vol.22
, pp. 2241-2249
-
-
Williams, L.J.1
Tabbaa, D.G.2
Li, N.3
Berlin, A.M.4
Shea, T.P.5
Maccallum, I.6
Lawrence, M.S.7
Drier, Y.8
Getz, G.9
Young, S.K.10
-
23
-
-
0021153574
-
Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis
-
Schwartz DC, Cantor CR. Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis. Cell 1984, 37:67-75.
-
(1984)
Cell
, vol.37
, pp. 67-75
-
-
Schwartz, D.C.1
Cantor, C.R.2
-
24
-
-
84858221706
-
Ensembl 2012
-
Database issue
-
Flicek P, Amode MR, Barrell D, Beal K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fairley S, Fitzgerald S. Ensembl 2012. Nucleic Acids Res 2012, 40(Database issue):D84-90.
-
(2012)
Nucleic Acids Res
, vol.40
-
-
Flicek, P.1
Amode, M.R.2
Barrell, D.3
Beal, K.4
Brent, S.5
Carvalho-Silva, D.6
Clapham, P.7
Coates, G.8
Fairley, S.9
Fitzgerald, S.10
-
25
-
-
79951530130
-
Scaffolding pre-assembled contigs using SSPACE
-
Boetzer M, Henkel CV, Jansen HJ, Butler D, Pirovano W. Scaffolding pre-assembled contigs using SSPACE. Bioinformatics 2011, 27:578-579.
-
(2011)
Bioinformatics
, vol.27
, pp. 578-579
-
-
Boetzer, M.1
Henkel, C.V.2
Jansen, H.J.3
Butler, D.4
Pirovano, W.5
-
26
-
-
84860752901
-
Statistical significance of optical map alignments
-
Sarkar D, Goldstein S, Schwartz DC, Newton MA. Statistical significance of optical map alignments. J Comput Biol 2012, 19:478-492.
-
(2012)
J Comput Biol
, vol.19
, pp. 478-492
-
-
Sarkar, D.1
Goldstein, S.2
Schwartz, D.C.3
Newton, M.A.4
-
27
-
-
33750453045
-
An algorithm for assembly of ordered restriction maps from single DNA molecules
-
Valouev A, Schwartz DC, Zhou S, Waterman MS. An algorithm for assembly of ordered restriction maps from single DNA molecules. Proc Natl Acad Sci U S A 2006, 103:15770-15775.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 15770-15775
-
-
Valouev, A.1
Schwartz, D.C.2
Zhou, S.3
Waterman, M.S.4
-
28
-
-
75649124547
-
De novo assembly of human genomes with massively parallel short read sequencing
-
Li R, Zhu H, Ruan J, Qian W, Fang X, Shi Z, Li Y, Li S, Shan G, Kristiansen K. De novo assembly of human genomes with massively parallel short read sequencing. Genome Res 2010, 20:265-272.
-
(2010)
Genome Res
, vol.20
, pp. 265-272
-
-
Li, R.1
Zhu, H.2
Ruan, J.3
Qian, W.4
Fang, X.5
Shi, Z.6
Li, Y.7
Li, S.8
Shan, G.9
Kristiansen, K.10
-
29
-
-
79953192561
-
A vertebrate case study of the quality of assemblies derived from next-generation sequences
-
Ye L, Hillier LW, Minx P, Thane N, Locke DP, Martin JC, Chen L, Mitreva M, Miller JR, Haub KV. A vertebrate case study of the quality of assemblies derived from next-generation sequences. Genome Biol 2011, 12:R31.
-
(2011)
Genome Biol
, vol.12
-
-
Ye, L.1
Hillier, L.W.2
Minx, P.3
Thane, N.4
Locke, D.P.5
Martin, J.C.6
Chen, L.7
Mitreva, M.8
Miller, J.R.9
Haub, K.V.10
-
30
-
-
79954672317
-
Genome structural variation discovery and genotyping
-
Alkan C, Coe BP, Eichler EE. Genome structural variation discovery and genotyping. Nat Rev Genet 2011, 12:363-376.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 363-376
-
-
Alkan, C.1
Coe, B.P.2
Eichler, E.E.3
-
31
-
-
79955416773
-
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
-
Kloosterman WP, Guryev V, van Roosmalen M, Duran KJ, de Bruijn E, Bakker SC, Letteboer T, van Nesselrooij B, Hochstenbach R, Poot M. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet 2011, 20:1916-1924.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1916-1924
-
-
Kloosterman, W.P.1
Guryev, V.2
van Roosmalen, M.3
Duran, K.J.4
de Bruijn, E.5
Bakker, S.C.6
Letteboer, T.7
van Nesselrooij, B.8
Hochstenbach, R.9
Poot, M.10
-
32
-
-
80054698731
-
Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer
-
Kloosterman WP, Hoogstraat M, Paling O, Tavakoli-Yaraki M, Renkens I, Vermaat JS, van Roosmalen MJ, van Lieshout S, Nijman IJ, Roessingh W. Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer. Genome Biol 2011, 12:R103.
-
(2011)
Genome Biol
, vol.12
-
-
Kloosterman, W.P.1
Hoogstraat, M.2
Paling, O.3
Tavakoli-Yaraki, M.4
Renkens, I.5
Vermaat, J.S.6
van Roosmalen, M.J.7
van Lieshout, S.8
Nijman, I.J.9
Roessingh, W.10
-
33
-
-
78650959663
-
Massive genomic rearrangement acquired in a single catastrophic event during cancer development
-
Stephens PJ, Greenman CD, Fu B, Yang F, Bignell GR, Mudie LJ, Pleasance ED, Lau KW, Beare D, Stebbings LA. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 2011, 144:27-40.
-
(2011)
Cell
, vol.144
, pp. 27-40
-
-
Stephens, P.J.1
Greenman, C.D.2
Fu, B.3
Yang, F.4
Bignell, G.R.5
Mudie, L.J.6
Pleasance, E.D.7
Lau, K.W.8
Beare, D.9
Stebbings, L.A.10
-
34
-
-
84859216598
-
Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes
-
Molenaar JJ, Koster J, Zwijnenburg DA, van Sluis P, Valentijn LJ, van der Ploeg I, Hamdi M, van Nes J, Westerman BA, van Arkel J. Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature 2012, 483:589-593.
-
(2012)
Nature
, vol.483
, pp. 589-593
-
-
Molenaar, J.J.1
Koster, J.2
Zwijnenburg, D.A.3
van Sluis, P.4
Valentijn, L.J.5
van der Ploeg, I.6
Hamdi, M.7
van Nes, J.8
Westerman, B.A.9
van Arkel, J.10
-
35
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F. Mapping and sequencing of structural variation from eight human genomes. Nature 2008, 453:56-64.
-
(2008)
Nature
, vol.453
, pp. 56-64
-
-
Kidd, J.M.1
Cooper, G.M.2
Donahue, W.F.3
Hayden, H.S.4
Sampas, N.5
Graves, T.6
Hansen, N.7
Teague, B.8
Alkan, C.9
Antonacci, F.10
-
36
-
-
77952242983
-
Characterization of missing human genome sequences and copy-number polymorphic insertions
-
Kidd JM, Sampas N, Antonacci F, Graves T, Fulton R, Hayden HS, Alkan C, Malig M, Ventura M, Giannuzzi G. Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat Methods 2010, 7:365-371.
-
(2010)
Nat Methods
, vol.7
, pp. 365-371
-
-
Kidd, J.M.1
Sampas, N.2
Antonacci, F.3
Graves, T.4
Fulton, R.5
Hayden, H.S.6
Alkan, C.7
Malig, M.8
Ventura, M.9
Giannuzzi, G.10
-
37
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009, 25:1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
|