-
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
-
-
78649773164
-
Rapid, low-input, lowbias construction of shotgun fragment libraries by high-density in vitro transposition
-
doi: 10.1186/gb-2010-11-12-r119
-
Adey A, Morrison HG, Asan, Xun X, Kitzman JO, Turner EH, Stackhouse B, MacKenzie AP, Caruccio NC, Zhang X, et al. 2010. Rapid, low-input, lowbias construction of shotgun fragment libraries by high-density in vitro transposition. Genome Biol 11: R119. doi: 10.1186/gb-2010-11-12-r119.
-
(2010)
Genome Biol
, vol.11
-
-
Adey, A.1
Morrison, H.G.2
Asan3
Xun, X.4
Kitzman, J.O.5
Turner, E.H.6
Stackhouse, B.7
MacKenzie, A.P.8
Caruccio, N.C.9
Zhang, X.10
-
3
-
-
35748951614
-
Direct selection of human genomic loci by microarray hybridization
-
DOI 10.1038/nmeth1111, PII NMETH1111
-
Albert TJ, Molla MN, Muzny DM, Nazareth L, Wheeler D, Song X, Richmond TA, Middle CM, Rodesch MJ, Packard CJ, et al. 2007. Direct selection of human genomic loci bymicroarray hybridization. NatMethods 4: 903-905. (Pubitemid 350042375)
-
(2007)
Nature Methods
, vol.4
, Issue.11
, pp. 903-905
-
-
Albert, T.J.1
Molla, M.N.2
Muzny, D.M.3
Nazareth, L.4
Wheeler, D.5
Song, X.6
Richmond, T.A.7
Middle, C.M.8
Rodesch, M.J.9
Packard, C.J.10
Weinstock, G.M.11
Gibbs, R.A.12
-
4
-
-
79955691833
-
Large scale library generation for high throughput sequencing
-
doi: 10.1371/journal.pone.0019119
-
Borgstrom E, Lundin S, Lundeberg J. 2011. Large scale library generation for high throughput sequencing. PLoS ONE 6: e19119. doi: 10.1371/journal.pone. 0019119.
-
(2011)
PLoS ONE
, vol.6
-
-
Borgstrom, E.1
Lundin, S.2
Lundeberg, J.3
-
5
-
-
80054757012
-
Performance comparison of exome DNA sequencing technologies
-
Clark MJ, Chen R, Lam HY, Karczewski KJ, Euskirchen G, Butte AJ, Snyder M. 2011. Performance comparison of exome DNA sequencing technologies. Nat Biotechnol 29: 908-914.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 908-914
-
-
Clark, M.J.1
Chen, R.2
Lam, H.Y.3
Karczewski, K.J.4
Euskirchen, G.5
Butte, A.J.6
Snyder, M.7
-
6
-
-
53249132629
-
Identification of genetic variants using bar-coded multiplexed sequencing
-
Craig DW, Pearson JV, Szelinger S, Sekar A, Redman M, Corneveaux JJ, Pawlowski TL, Laub T, Nunn G, Stephan DA, et al. 2008. Identification of genetic variants using bar-coded multiplexed sequencing. Nat Methods 5: 887-893.
-
(2008)
Nat Methods
, vol.5
, pp. 887-893
-
-
Craig, D.W.1
Pearson, J.V.2
Szelinger, S.3
Sekar, A.4
Redman, M.5
Corneveaux, J.J.6
Pawlowski, T.L.7
Laub, T.8
Nunn, G.9
Stephan, D.A.10
-
7
-
-
78349251346
-
Combining target enrichment with barcode multiplexing for high throughput SNP discovery
-
doi: 10.1186/1471-2164-11-641
-
Cummings N, King R, Rickers A, Kaspi A, Lunke S, Haviv I, Jowett JB. 2010. Combining target enrichment with barcode multiplexing for high throughput SNP discovery. BMC Genomics 11: 641. doi: 10.1186/1471-2164-11-641.
-
(2010)
BMC Genomics
, vol.11
, pp. 641
-
-
Cummings, N.1
King, R.2
Rickers, A.3
Kaspi, A.4
Lunke, S.5
Haviv, I.6
Jowett, J.B.7
-
8
-
-
0028820187
-
Solid-phase reversible immobilization for the isolation of PCR products
-
DeAngelis MM, Wang DG, Hawkins TL. 1995. Solid-phase reversible immobilization for the isolation of PCR products. Nucleic Acids Res 23: 4742-4743. (Pubitemid 126003282)
-
(1995)
Applied Nursing Research
, vol.8
, Issue.4
, pp. 4742-4743
-
-
DeAngelis, M.M.1
Wang, D.G.2
Hawkins, T.L.3
-
9
-
-
77954551785
-
Semi-automated library preparation for high-throughput DNA sequencing platforms
-
doi: 10.1155/2010/617469
-
Farias-Hesson E, Erikson J, Atkins A, Shen P, Davis RW, Scharfe C, Pourmand N. 2010. Semi-automated library preparation for high-throughput DNA sequencing platforms. J Biomed Biotechnol 2010: 617469. doi: 10.1155/2010/617469.
-
(2010)
J Biomed Biotechnol
, vol.2010
, pp. 617469
-
-
Farias-Hesson, E.1
Erikson, J.2
Atkins, A.3
Shen, P.4
Davis, R.W.5
Scharfe, C.6
Pourmand, N.7
-
10
-
-
78650762588
-
A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries
-
doi: 10.1186/gb-2011-12-1-r1
-
Fisher S, Barry A, Abreu J, Minie B, Nolan J, Delorey TM, Young G, Fennell TJ, Allen A, Ambrogio L, et al. 2011. A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries. Genome Biol 12: R1. doi: 10.1186/gb-2011-12-1-r1.
-
(2011)
Genome Biol
, vol.12
-
-
Fisher, S.1
Barry, A.2
Abreu, J.3
Minie, B.4
Nolan, J.5
Delorey, T.M.6
Young, G.7
Fennell, T.J.8
Allen, A.9
Ambrogio, L.10
-
11
-
-
59849113821
-
Solution hybrid selection with ultra-long oligonucleotides formassively parallel targeted sequencing
-
Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, Brockman W, Fennell T, Giannoukos G, Fisher S, Russ C, et al. 2009. Solution hybrid selection with ultra-long oligonucleotides formassively parallel targeted sequencing. Nat Biotechnol 27: 182-189.
-
(2009)
Nat Biotechnol
, vol.27
, pp. 182-189
-
-
Gnirke, A.1
Melnikov, A.2
Maguire, J.3
Rogov, P.4
LeProust, E.M.5
Brockman, W.6
Fennell, T.7
Giannoukos, G.8
Fisher, S.9
Russ, C.10
-
12
-
-
36549021060
-
Genome-wide in situ exon capture for selective resequencing
-
DOI 10.1038/ng.2007.42, PII NG200742
-
Hodges E, Xuan Z, Balija V, Kramer M, Molla MN, Smith SW, Middle CM, Rodesch MJ, Albert TJ, Hannon GJ, et al. 2007. Genome-wide in situ exon capture for selective resequencing. Nat Genet 39: 1522-1527. (Pubitemid 350191350)
-
(2007)
Nature Genetics
, vol.39
, Issue.12
, pp. 1522-1527
-
-
Hodges, E.1
Xuan, Z.2
Balija, V.3
Kramer, M.4
Molla, M.N.5
Smith, S.W.6
Middle, C.M.7
Rodesch, M.J.8
Albert, T.J.9
Hannon, G.J.10
McCombie, W.R.11
-
13
-
-
79960502359
-
Precise manipulation of chromosomes in vivo enables genome-wide codon replacement
-
Isaacs FJ, Carr PA, Wang HH, Lajoie MJ, Sterling B, Kraal L, Tolonen AC, Gianoulis TA, Goodman DB, Reppas NB, et al. 2011. Precise manipulation of chromosomes in vivo enables genome-wide codon replacement. Science 333: 348-353.
-
(2011)
Science
, vol.333
, pp. 348-353
-
-
Isaacs, F.J.1
Carr, P.A.2
Wang, H.H.3
Lajoie, M.J.4
Sterling, B.5
Kraal, L.6
Tolonen, A.C.7
Gianoulis, T.A.8
Goodman, D.B.9
Reppas, N.B.10
-
14
-
-
62649084535
-
Power of deep, all-exon resequencing for discovery of human trait genes
-
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 106: 3871-3876.
-
(2009)
Proc Natl Acad Sci
, vol.106
, pp. 3871-3876
-
-
Kryukov, G.V.1
Shpunt, A.2
Stamatoyannopoulos, J.A.3
Sunyaev, S.R.4
-
15
-
-
79951481957
-
Initial impact of the sequencing of the human genome
-
Lander ES. 2011. Initial impact of the sequencing of the human genome. Nature 470: 187-197.
-
(2011)
Nature
, vol.470
, pp. 187-197
-
-
Lander, E.S.1
-
16
-
-
77957947562
-
Hundreds of variants clustered in genomic loci and biological pathways affect human height
-
Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, et al. 2010. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467: 832-838.
-
(2010)
Nature
, vol.467
, pp. 832-838
-
-
Lango Allen, H.1
Estrada, K.2
Lettre, G.3
Berndt, S.I.4
Weedon, M.N.5
Rivadeneira, F.6
Willer, C.J.7
Jackson, A.U.8
Vedantam, S.9
Raychaudhuri, S.10
-
17
-
-
77953218382
-
A scalable, fully automated process for construction of sequence-ready barcoded libraries for 454
-
doi: 10.1186/gb-2010-11-2-r15
-
Lennon NJ, Lintner RE, Anderson S, Alvarez P, Barry A, BrockmanW, Daza R, Erlich RL, Giannoukos G, Green L, et al. 2010. A scalable, fully automated process for construction of sequence-ready barcoded libraries for 454. Genome Biol 11: R15. doi: 10.1186/gb-2010-11-2-r15.
-
(2010)
Genome Biol
, vol.11
-
-
Lennon, N.J.1
Lintner, R.E.2
Anderson, S.3
Alvarez, P.4
Barry, A.5
Brockman, W.6
Daza, R.7
Erlich, R.L.8
Giannoukos, G.9
Green, L.10
-
18
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. 2009. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
19
-
-
39749181521
-
Worldwide human relationships inferred from genome-wide patterns of variation
-
DOI 10.1126/science.1153717
-
Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, Ramachandran S, Cann HM, Barsh GS, Feldman M, Cavalli-Sforza LL, et al. 2008. Worldwide human relationships inferred from genome-wide patterns of variation. Science 319: 1100-1104. (Pubitemid 351300793)
-
(2008)
Science
, vol.319
, Issue.5866
, pp. 1100-1104
-
-
Li, J.Z.1
Absher, D.M.2
Tang, H.3
Southwick, A.M.4
Casto, A.M.5
Ramachandran, S.6
Cann, H.M.7
Barsh, G.S.8
Feldman, M.9
Cavalli-Sforza, L.L.10
Myers, R.M.11
-
20
-
-
79957951017
-
Low coverage sequencing: Implications for the design of complex trait association studies
-
Li Y, Sidore C, Kang HM, Boehnke M, Abecasis G. 2011. Low coverage sequencing: Implications for the design of complex trait association studies. Genome Res 21: 940-951.
-
(2011)
Genome Res
, vol.21
, pp. 940-951
-
-
Li, Y.1
Sidore, C.2
Kang, H.M.3
Boehnke, M.4
Abecasis, G.5
-
21
-
-
77956313182
-
Increased throughput by parallelization of library preparation for massive sequencing
-
doi: 10.1371/journal.pone.0010029
-
Lundin S, Stranneheim H, Pettersson E, Klevebring D, Lundeberg J. 2010. Increased throughput by parallelization of library preparation for massive sequencing. PLoS ONE 5: e10029. doi: 10.1371/journal.pone.0010029.
-
(2010)
PLoS ONE
, vol.5
-
-
Lundin, S.1
Stranneheim, H.2
Pettersson, E.3
Klevebring, D.4
Lundeberg, J.5
-
22
-
-
79151484424
-
The study of eQTL variations by RNA-seq: From SNPs to phenotypes
-
Majewski J, Pastinen T. 2010. The study of eQTL variations by RNA-seq: From SNPs to phenotypes. Trends Genet 27: 72-79.
-
(2010)
Trends Genet
, vol.27
, pp. 72-79
-
-
Majewski, J.1
Pastinen, T.2
-
23
-
-
77449121614
-
Target-enrichment strategies for nextgeneration sequencing
-
Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, Kumar A, Howard E, Shendure J, Turner DJ. 2010. Target-enrichment strategies for nextgeneration sequencing. Nat Methods 7: 111-118.
-
(2010)
Nat Methods
, vol.7
, pp. 111-118
-
-
Mamanova, L.1
Coffey, A.J.2
Scott, C.E.3
Kozarewa, I.4
Turner, E.H.5
Kumar, A.6
Howard, E.7
Shendure, J.8
Turner, D.J.9
-
24
-
-
77954407332
-
Genomewide association studies and assessment of the risk of disease
-
Manolio TA. 2010. Genomewide association studies and assessment of the risk of disease. N Engl J Med 363: 166-176.
-
(2010)
N Engl J Med
, vol.363
, pp. 166-176
-
-
Manolio, T.A.1
-
25
-
-
77956285690
-
Illumina sequencing library preparation for highly multiplexed target capture and sequencing
-
doi: 10.1101/pdb.prot5448
-
Meyer M, Kircher M. 2010. Illumina sequencing library preparation for highly multiplexed target capture and sequencing. Cold Spring Harb Protoc doi: 10.1101/pdb.prot5448.
-
(2010)
Cold Spring Harb Protoc
-
-
Meyer, M.1
Kircher, M.2
-
26
-
-
78049321160
-
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples
-
Nijman IJ, Mokry M, van Boxtel R, Toonen P, de Bruijn E, Cuppen E. 2010. Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples. Nat Methods 7: 913-915.
-
(2010)
Nat Methods
, vol.7
, pp. 913-915
-
-
Nijman, I.J.1
Mokry, M.2
Van Boxtel, R.3
Toonen, P.4
De Bruijn, E.5
Cuppen, E.6
-
27
-
-
57049122389
-
A large genome center's improvements to the Illumina sequencing system
-
Quail MA, Kozarewa I, Smith F, Scally A, Stephens PJ, Durbin R, Swerdlow H, Turner DJ. 2008. A large genome center's improvements to the Illumina sequencing system. Nat Methods 5: 1005-1010.
-
(2008)
Nat Methods
, vol.5
, pp. 1005-1010
-
-
Quail, M.A.1
Kozarewa, I.2
Smith, F.3
Scally, A.4
Stephens, P.J.5
Durbin, R.6
Swerdlow, H.7
Turner, D.J.8
-
28
-
-
67651089508
-
Improved protocols for the illumina genome analyzer sequencing system
-
Quail MA, Swerdlow H, Turner DJ. 2009. Improved protocols for the illumina genome analyzer sequencing system. Curr Protoc Hum Genet 62: 18.2.1-18.2.27.
-
(2009)
Curr Protoc Hum Genet
, vol.62
-
-
Quail, M.A.1
Swerdlow, H.2
Turner, D.J.3
-
29
-
-
69549139892
-
Direct multiplex sequencing (DMPS) - A novel method for targeted high-throughput sequencing of ancient andhighly degradedDNA
-
Stiller M, Knapp M, Stenzel U, Hofreiter M, Meyer M. 2009. Direct multiplex sequencing (DMPS) - a novel method for targeted high-throughput sequencing of ancient andhighly degradedDNA. Genome Res 19: 1843-1848.
-
(2009)
Genome Res
, vol.19
, pp. 1843-1848
-
-
Stiller, M.1
Knapp, M.2
Stenzel, U.3
Hofreiter, M.4
Meyer, M.5
-
30
-
-
78649297854
-
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
-
Teer JK, Bonnycastle LL, Chines PS, Hansen NF, Aoyama N, Swift AJ, Abaan HO, Albert TJ, Margulies EH, Green ED, et al. 2010. Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res 20: 1420-1431.
-
(2010)
Genome Res
, vol.20
, pp. 1420-1431
-
-
Teer, J.K.1
Bonnycastle, L.L.2
Chines, P.S.3
Hansen, N.F.4
Aoyama, N.5
Swift, A.J.6
Abaan, H.O.7
Albert, T.J.8
Margulies, E.H.9
Green, E.D.10
|