-
1
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy, S. et al. The diploid genome sequence of an individual human. PLoS Biol. 5, e254 (2007)
-
(2007)
PLoS Biol.
, vol.5
-
-
Levy, S.1
-
2
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
International HapMap Consortium
-
International HapMap Consortium. Integrating common and rare genetic variation in diverse human populations. Nature 467, 52-58 (2010)
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
-
3
-
-
77952136530
-
A draft sequence of the Neandertal genome
-
Green, R.E. et al. A draft sequence of the Neandertal genome. Science 328, 710-722 (2010)
-
(2010)
Science
, vol.328
, pp. 710-722
-
-
Green, R.E.1
-
4
-
-
78049357122
-
Human genome: Genomes by the thousand
-
Anonymous
-
Anonymous. Human genome: Genomes by the thousand. Nature 467, 1026-1027 (2010)
-
(2010)
Nature
, vol.467
, pp. 1026-1027
-
-
-
5
-
-
53649106195
-
Next-generation DNA sequencing
-
Shendure, J. & Ji, H. Next-generation DNA sequencing. Nat. Biotechnol. 26, 1135-1145 (2008)
-
(2008)
Nat. Biotechnol.
, vol.26
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
6
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
Kidd, J.M. et al. Mapping and sequencing of structural variation from eight human genomes. Nature 453, 56-64 (2008)
-
(2008)
Nature
, vol.453
, pp. 56-64
-
-
Kidd, J.M.1
-
7
-
-
74049090046
-
Building the sequence map of the human pan-genome
-
Li, R. et al. Building the sequence map of the human pan-genome. Nat. Biotechnol. 28, 57-63 (2010)
-
(2010)
Nat. Biotechnol.
, vol.28
, pp. 57-63
-
-
Li, R.1
-
8
-
-
77952242983
-
Characterization of missing human genome sequences and copy-number polymorphic insertions
-
Kidd, J.M. et al. Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat. Methods 7, 365-371 (2010)
-
(2010)
Nat. Methods
, vol.7
, pp. 365-371
-
-
Kidd, J.M.1
-
9
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
International Human Genome Sequencing Consortium
-
International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001)
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
-
10
-
-
69749090013
-
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
-
McKernan, K.J. et al. Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res. 19, 1527-1541 (2009)
-
(2009)
Genome Res.
, vol.19
, pp. 1527-1541
-
-
McKernan, K.J.1
-
11
-
-
77956279237
-
Assembly of large genomes using second-generation sequencing
-
Schatz, M.C., Delcher, A.L. & Salzberg, S.L. Assembly of large genomes using second-generation sequencing. Genome Res. 20, 1165-1173 (2010)
-
(2010)
Genome Res.
, vol.20
, pp. 1165-1173
-
-
Schatz, M.C.1
Delcher, A.L.2
Salzberg, S.L.3
-
12
-
-
55549097849
-
The diploid genome sequence of an Asian individual
-
Wang, J. et al. The diploid genome sequence of an Asian individual. Nature 456, 60-65 (2008)
-
(2008)
Nature
, vol.456
, pp. 60-65
-
-
Wang, J.1
-
13
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
Roach, J.C. et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328, 636-639 (2010)
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
-
14
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium
-
1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010)
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
15
-
-
70349472875
-
Reconstructing Indian population history
-
Reich, D., Thangaraj, K., Patterson, N., Price, A.L. & Singh, L. Reconstructing Indian population history. Nature 461, 489-494 (2009)
-
(2009)
Nature
, vol.461
, pp. 489-494
-
-
Reich, D.1
Thangaraj, K.2
Patterson, N.3
Price, A.L.4
Singh, L.5
-
16
-
-
78649773164
-
Rapid, low-input, low-bias construction of shotgun fragment libraries by high density in vitro transposition
-
Adey, A. et al. Rapid, low-input, low-bias construction of shotgun fragment libraries by high density in vitro transposition. Genome Biol. 11, R119 (2010)
-
(2010)
Genome Biol.
, vol.11
-
-
Adey, A.1
-
17
-
-
67649884743
-
And accurate short read alignment with Burrows-Wheeler transform
-
Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Fast, D.R.2
-
18
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010)
-
(2010)
Genome Res.
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
-
19
-
-
49549099085
-
HapCUT: An efficient and accurate algorithm for the haplotype assembly problem
-
Bansal, V. & Bafna, V. HapCUT: an efficient and accurate algorithm for the haplotype assembly problem. Bioinformatics 24, i153-i159 (2008)
-
(2008)
Bioinformatics
, vol.24
-
-
Bansal, V.1
Bafna, V.2
-
20
-
-
34347376733
-
Diploid genome reconstruction of Ciona intestinalis and comparative analysis with Ciona savignyi
-
Kim, J.H., Waterman, M.S. & Li, L.M. Diploid genome reconstruction of Ciona intestinalis and comparative analysis with Ciona savignyi. Genome Res. 17, 1101-1110 (2007)
-
(2007)
Genome Res.
, vol.17
, pp. 1101-1110
-
-
Kim, J.H.1
Waterman, M.S.2
Li, L.M.3
-
21
-
-
48949103013
-
An MCMC algorithm for haplotype assembly from whole-genome sequence data
-
Bansal, V., Halpern, A.L., Axelrod, N. & Bafna, V. An MCMC algorithm for haplotype assembly from whole-genome sequence data. Genome Res. 18, 1336-1346 (2008)
-
(2008)
Genome Res.
, vol.18
, pp. 1336-1346
-
-
Bansal, V.1
Halpern, A.L.2
Axelrod, N.3
Bafna, V.4
-
22
-
-
70349556543
-
Personalized copy number and segmental duplication maps using next-generation sequencing
-
Alkan, C. et al. Personalized copy number and segmental duplication maps using next-generation sequencing. Nat. Genet. 41, 1061-1067 (2009)
-
(2009)
Nat. Genet.
, vol.41
, pp. 1061-1067
-
-
Alkan, C.1
-
23
-
-
77954205450
-
Next-generation VariationHunter: Combinatorial algorithms for transposon insertion discovery
-
Hormozdiari, F. et al. Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery. Bioinformatics 26, i350-i357 (2010)
-
(2010)
Bioinformatics
, vol.26
-
-
Hormozdiari, F.1
-
24
-
-
50449104624
-
Evolutionary toggling of the MAPT 17q21.31 inversion region
-
Zody, M.C. et al. Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat. Genet. 40, 1076-1083 (2008)
-
(2008)
Nat. Genet.
, vol.40
, pp. 1076-1083
-
-
Zody, M.C.1
-
25
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng, S.B. et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461, 272-276 (2009)
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
-
26
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng, S.B. et al. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet. 42, 30-35 (2010)
-
(2010)
Nat. Genet.
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
-
27
-
-
0034641736
-
Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness
-
Drysdale, C.M. et al. Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc. Natl. Acad. Sci. USA 97, 10483-10488 (2000)
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 10483-10488
-
-
Drysdale, C.M.1
-
28
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
Korbel, J.O. et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420-426 (2007)
-
(2007)
Science
, vol.318
, pp. 420-426
-
-
Korbel, J.O.1
-
29
-
-
77951652022
-
Direct determination of molecular haplotypes by chromosome microdissection
-
Ma, L. et al. Direct determination of molecular haplotypes by chromosome microdissection. Nat. Methods 7, 299-301 (2010)
-
(2010)
Nat. Methods
, vol.7
, pp. 299-301
-
-
Ma, L.1
-
30
-
-
78651276230
-
Allele-specific DNA methylation: Beyond imprinting
-
Tycko, B. Allele-specific DNA methylation: beyond imprinting. Hum. Mol. Genet. 19, R210-R220 (2010).
-
(2010)
Hum. Mol. Genet.
, vol.19
-
-
Tycko, B.1
-
31
-
-
28644448038
-
Targeted, haplotype-resolved resequencing of long segments of the human genome
-
Raymond, C.K. et al. Targeted, haplotype-resolved resequencing of long segments of the human genome. Genomics 86, 759-766 (2005)
-
(2005)
Genomics
, vol.86
, pp. 759-766
-
-
Raymond, C.K.1
-
32
-
-
78049412267
-
Diversity of human copy number variation and multicopy genes
-
Sudmant, P.H. et al. Diversity of human copy number variation and multicopy genes. Science 330, 641-646 (2010)
-
(2010)
Science
, vol.330
, pp. 641-646
-
-
Sudmant, P.H.1
-
33
-
-
43149115851
-
Velvet: Algorithms for de novo short read assembly using de Bruijn graphs
-
Zerbino, D.R. & Birney, E. Velvet: algorithms for de novo short read assembly using de Bruijn graphs. Genome Res. 18, 821-829 (2008).
-
(2008)
Genome Res.
, vol.18
, pp. 821-829
-
-
Zerbino, D.R.1
Birney, E.2
|