-
1
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium
-
Abecasis GR, et al.; 1000 Genomes Project Consortium (2010) A map of human genome variation from population-scale sequencing. Nature 467(7319):1061- 1073.
-
(2010)
Nature
, vol.467
, Issue.7319
, pp. 1061-1073
-
-
Abecasis, G.R.1
-
2
-
-
79954672317
-
Genome structural variation discovery and genotyping
-
Alkan C, Coe BP, Eichler EE (2011) Genome structural variation discovery and genotyping. Nat Rev Genet 12(5):363-376.
-
(2011)
Nat Rev Genet
, vol.12
, Issue.5
, pp. 363-376
-
-
Alkan, C.1
Coe, B.P.2
Eichler, E.E.3
-
3
-
-
70350010196
-
Sequencing genomes: From individuals to populations
-
Mir KU (2009) Sequencing genomes: From individuals to populations. Brief Funct Genomics Proteomics 8(5):367-378.
-
(2009)
Brief Funct Genomics Proteomics
, vol.8
, Issue.5
, pp. 367-378
-
-
Mir, K.U.1
-
4
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy S, et al. (2007) The diploid genome sequence of an individual human. PLoS Biol 5(10):e254.
-
(2007)
PLoS Biol
, vol.5
, Issue.10
-
-
Levy, S.1
-
5
-
-
69749124820
-
The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group
-
Ahn SM, et al. (2009) The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group. Genome Res 19(9):1622-1629.
-
(2009)
Genome Res
, vol.19
, Issue.9
, pp. 1622-1629
-
-
Ahn, S.M.1
-
6
-
-
43049107147
-
The functional impact of structural variation in humans
-
Hurles ME, Dermitzakis ET, Tyler-Smith C (2008) The functional impact of structural variation in humans. Trends Genet 24(5):238-245.
-
(2008)
Trends Genet
, vol.24
, Issue.5
, pp. 238-245
-
-
Hurles, M.E.1
Dermitzakis, E.T.2
Tyler-Smith, C.3
-
7
-
-
77949831756
-
Structural variation in the human genome and its role in disease
-
Stankiewicz P, Lupski JR (2010) Structural variation in the human genome and its role in disease. Annu Rev Med 61:437-455.
-
(2010)
Annu Rev Med
, vol.61
, pp. 437-455
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
8
-
-
78650959663
-
Massive genomic rearrangement acquired in a single catastrophic event during cancer development
-
Stephens PJ, et al. (2011) Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 144(1):27-40.
-
(2011)
Cell
, vol.144
, Issue.1
, pp. 27-40
-
-
Stephens, P.J.1
-
9
-
-
77954648699
-
High-resolution human genome structure by single-molecule analysis
-
Teague B, et al. (2010) High-resolution human genome structure by single-molecule analysis. Proc Natl Acad Sci USA 107(24):10848-10853.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.24
, pp. 10848-10853
-
-
Teague, B.1
-
10
-
-
0027485082
-
Ordered restriction maps of Saccharomyces cerevisiae chromosomes constructed by optical mapping
-
Schwartz DC, et al. (1993) Ordered restriction maps of Saccharomyces cerevisiae chromosomes constructed by optical mapping. Science 262(5130):110-114.
-
(1993)
Science
, vol.262
, Issue.5130
, pp. 110-114
-
-
Schwartz, D.C.1
-
11
-
-
33847371186
-
Rapid DNA mapping by fluorescent single molecule detection
-
Xiao M, et al. (2007) Rapid DNA mapping by fluorescent single molecule detection. Nucleic Acids Res 35(3):e16.
-
(2007)
Nucleic Acids Res
, vol.35
, Issue.3
-
-
Xiao, M.1
-
12
-
-
79952208606
-
DNA fluorocode: A single molecule, optical map of DNA with nanometre resolution
-
Neely RK, et al. (2010) DNA fluorocode: A single molecule, optical map of DNA with nanometre resolution. Chem Sci 1:453-460.
-
(2010)
Chem Sci
, vol.1
, pp. 453-460
-
-
Neely, R.K.1
-
13
-
-
78649341898
-
Single molecule linear analysis of DNA in nano-channel labeled with sequence specific fluorescent probes
-
Das SK, et al. (2010) Single molecule linear analysis of DNA in nano-channel labeled with sequence specific fluorescent probes. Nucleic Acids Res 38(18): e177.
-
(2010)
Nucleic Acids Res
, vol.38
, Issue.18
-
-
Das, S.K.1
-
14
-
-
84869234142
-
Capturing native long-range contiguity by in situ library construction and optical sequencing
-
Schwartz JJ, Lee C, Hiatt JB, Adey A, Shendure J (2012) Capturing native long-range contiguity by in situ library construction and optical sequencing. Proc Natl Acad Sci USA 109(46):18749-18754.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, Issue.46
, pp. 18749-18754
-
-
Schwartz, J.J.1
Lee, C.2
Hiatt, J.B.3
Adey, A.4
Shendure, J.5
-
15
-
-
78651304279
-
Whole-genome molecular haplotyping of single cells
-
Fan HC, Wang J, Potanina A, Quake SR (2011) Whole-genome molecular haplotyping of single cells. Nat Biotechnol 29(1):51-57.
-
(2011)
Nat Biotechnol
, vol.29
, Issue.1
, pp. 51-57
-
-
Fan, H.C.1
Wang, J.2
Potanina, A.3
Quake, S.R.4
-
16
-
-
79953224851
-
A device for extraction, manipulation and stretching of DNA from single human chromosomes
-
Rasmussen KH, et al. (2011) A device for extraction, manipulation and stretching of DNA from single human chromosomes. Lab Chip 11(8):1431-1433.
-
(2011)
Lab Chip
, vol.11
, Issue.8
, pp. 1431-1433
-
-
Rasmussen, K.H.1
-
17
-
-
4043068454
-
From the cover: The dynamics of genomic-length DNA molecules in 100-nm channels
-
Tegenfeldt JO, et al. (2004) From the cover: The dynamics of genomic-length DNA molecules in 100-nm channels. Proc Natl Acad Sci USA 101(30):10979- 10983.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, Issue.30
, pp. 10979-10983
-
-
Tegenfeldt, J.O.1
-
18
-
-
77952531418
-
DNA manipulation, sorting, and mapping in nanofluidic systems
-
Levy SL, Craighead HG (2010) DNA manipulation, sorting, and mapping in nanofluidic systems. Chem Soc Rev 39(3):1133-1152.
-
(2010)
Chem Soc Rev
, vol.39
, Issue.3
, pp. 1133-1152
-
-
Levy, S.L.1
Craighead, H.G.2
-
19
-
-
77950389176
-
Nanofluidic technology for biomolecule applications: A critical review
-
Napoli M, Eijkel JCT, Pennathur S (2010) Nanofluidic technology for biomolecule applications: A critical review. Lab Chip 10(8):957-985.
-
(2010)
Lab Chip
, vol.10
, Issue.8
, pp. 957-985
-
-
Napoli, M.1
Eijkel, J.C.T.2
Pennathur, S.3
-
20
-
-
77955829945
-
Single-molecule denaturation mapping of DNA in nanofluidic channels
-
Reisner W, et al. (2010) Single-molecule denaturation mapping of DNA in nanofluidic channels. Proc Natl Acad Sci USA 107(30):13294-13299.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.30
, pp. 13294-13299
-
-
Reisner, W.1
-
21
-
-
84865238551
-
Denaturation mapping of Saccharomyces cerevisiae
-
Welch RL, Sladek R, Dewar K, Reisner WW (2012) Denaturation mapping of Saccharomyces cerevisiae. Lab Chip 12(18):3314-3321.
-
(2012)
Lab Chip
, vol.12
, Issue.18
, pp. 3314-3321
-
-
Welch, R.L.1
Sladek, R.2
Dewar, K.3
Reisner, W.W.4
-
22
-
-
84864883566
-
Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly
-
Lam ET, et al. (2012) Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly. Nat Biotechnol 30(8):771-776.
-
(2012)
Nat Biotechnol
, vol.30
, Issue.8
, pp. 771-776
-
-
Lam, E.T.1
-
23
-
-
79955422145
-
Nanochannel confinement: DNA stretch approaching full contour length
-
Kim Y, et al. (2011) Nanochannel confinement: DNA stretch approaching full contour length. Lab on a Chip 11(10):1721-1729.
-
(2011)
Lab on A Chip
, vol.11
, Issue.10
, pp. 1721-1729
-
-
Kim, Y.1
-
24
-
-
79961181124
-
Structural variation in two human genomes mapped at singlenucleotide resolution by whole genome de novo assembly
-
Li Y, et al. (2011) Structural variation in two human genomes mapped at singlenucleotide resolution by whole genome de novo assembly. Nat Biotechnol 29(8): 723-730.
-
(2011)
Nat Biotechnol
, vol.29
, Issue.8
, pp. 723-730
-
-
Li, Y.1
-
25
-
-
69749090013
-
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
-
McKernan KJ, et al. (2009) Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res 19(9):1527-1541.
-
(2009)
Genome Res
, vol.19
, Issue.9
, pp. 1527-1541
-
-
McKernan, K.J.1
-
26
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley DR, et al. (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456(7218):53-59.
-
(2008)
Nature
, vol.456
, Issue.7218
, pp. 53-59
-
-
Bentley, D.R.1
-
27
-
-
0242551290
-
Speed-up of DNA melting algorithm with complete nearest neighbor properties
-
Tøstesen E, Liu F, Jenssen TK, Hovig E (2003) Speed-up of DNA melting algorithm with complete nearest neighbor properties. Biopolymers 70(3):364-376.
-
(2003)
Biopolymers
, vol.70
, Issue.3
, pp. 364-376
-
-
Tøstesen, E.1
Liu, F.2
Jenssen, T.K.3
Hovig, E.4
-
28
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
Kidd JM, et al. (2008) Mapping and sequencing of structural variation from eight human genomes. Nature 453(7191):56-64.
-
(2008)
Nature
, vol.453
, Issue.7191
, pp. 56-64
-
-
Kidd, J.M.1
-
29
-
-
0034831138
-
Segmental duplications: Organization and impact within the current human genome project assembly
-
Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE (2001) Segmental duplications: Organization and impact within the current human genome project assembly. Genome Res 11(6):1005-1017.
-
(2001)
Genome Res
, vol.11
, Issue.6
, pp. 1005-1017
-
-
Bailey, J.A.1
Yavor, A.M.2
Massa, H.F.3
Trask, B.J.4
Eichler, E.E.5
-
30
-
-
83055181941
-
Assemblathon 1: A competitive assessment of de novo short read assembly methods
-
Earl D, et al. (2011) Assemblathon 1: A competitive assessment of de novo short read assembly methods. Genome Res 21(12):2224-2241.
-
(2011)
Genome Res
, vol.21
, Issue.12
, pp. 2224-2241
-
-
Earl, D.1
-
31
-
-
0032727009
-
A shotgun optical map of the entire Plasmodium falciparum genome
-
Lai Z, et al. (1999) A shotgun optical map of the entire Plasmodium falciparum genome. Nat Genet 23(3):309-313.
-
(1999)
Nat Genet
, vol.23
, Issue.3
, pp. 309-313
-
-
Lai, Z.1
-
32
-
-
35649003378
-
Validation of rice genome sequence by optical mapping
-
Zhou S, et al. (2007) Validation of rice genome sequence by optical mapping. BMC Genomics 8:278.
-
(2007)
BMC Genomics
, vol.8
, pp. 278
-
-
Zhou, S.1
-
33
-
-
78650400711
-
Injection molded nanofluidic chips: Fabrication method and functional tests using single-molecule DNA experiments
-
Utko P, Persson F, Kristensen A, Larsen NB (2011) Injection molded nanofluidic chips: Fabrication method and functional tests using single-molecule DNA experiments. Lab Chip 11(2):303-308.
-
(2011)
Lab Chip
, vol.11
, Issue.2
, pp. 303-308
-
-
Utko, P.1
Persson, F.2
Kristensen, A.3
Larsen, N.B.4
-
34
-
-
0034575479
-
Sequence variation in genes and genomic DNA: Methods for large-scale analysis
-
Mir KU, Southern EM (2000) Sequence variation in genes and genomic DNA: Methods for large-scale analysis. Annu Rev Genomics Hum Genet 1:329-360.
-
(2000)
Annu Rev Genomics Hum Genet
, vol.1
, pp. 329-360
-
-
Mir, K.U.1
Southern, E.M.2
-
35
-
-
78651333227
-
Haplotype-resolved genome sequencing of a Gujarati Indian individual
-
Kitzman JO, et al. (2011) Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol 29(1):59-63.
-
(2011)
Nat Biotechnol
, vol.29
, Issue.1
, pp. 59-63
-
-
Kitzman, J.O.1
-
36
-
-
80053019891
-
Haplotype phasing: Existing methods and new developments
-
Browning SR, Browning BL (2011) Haplotype phasing: Existing methods and new developments. Nat Rev Genet 12(10):703-714.
-
(2011)
Nat Rev Genet
, vol.12
, Issue.10
, pp. 703-714
-
-
Browning, S.R.1
Browning, B.L.2
-
38
-
-
2542485691
-
Reparametrizing the loop entropy weights: Effect on DNA melting curves
-
Blossey R, Carlon E (2003) Reparametrizing the loop entropy weights: effect on DNA melting curves. Phys Rev E Stat Nonlin Soft Matter Phys 68(6 Pt 1): 061911.
-
(2003)
Phys Rev e Stat Nonlin Soft Matter Phys
, vol.68
, Issue.6 PART 1
, pp. 061911
-
-
Blossey, R.1
Carlon, E.2
|