-
1
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, et al. (2005) Fine-scale structural variation of the human genome. Nat Genet 37: 727-732.
-
(2005)
Nat Genet
, vol.37
, pp. 727-732
-
-
Tuzun, E.1
Sharp, A.J.2
Bailey, J.A.3
Kaul, R.4
Morrison, V.A.5
-
2
-
-
34248525150
-
Completing the map of human genetic variation
-
Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, et al. (2007) Completing the map of human genetic variation. Nature 447: 161-165.
-
(2007)
Nature
, vol.447
, pp. 161-165
-
-
Eichler, E.E.1
Nickerson, D.A.2
Altshuler, D.3
Bowcock, A.M.4
Brooks, L.D.5
-
3
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Consortium TGP, (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Consortium, T.G.P.1
-
4
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, et al. (2011) Mapping copy number variation by population-scale genome sequencing. Nature 470: 59-65.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
-
5
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al. (2006) Global variation in copy number in the human genome. Nature 444: 444-454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
-
6
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, et al. (2004) Detection of large-scale variation in the human genome. Nat Genet 36: 949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
-
7
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305: 525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
-
8
-
-
53549085971
-
Rapid whole-genome mutational profiling using next-generation sequencing technologies
-
Smith DR, Quinlan AR, Peckham HE, Makowsky K, Tao W, et al. (2008) Rapid whole-genome mutational profiling using next-generation sequencing technologies. Genome Res 18: 1638-1642.
-
(2008)
Genome Res
, vol.18
, pp. 1638-1642
-
-
Smith, D.R.1
Quinlan, A.R.2
Peckham, H.E.3
Makowsky, K.4
Tao, W.5
-
9
-
-
39649117755
-
The impact of next-generation sequencing technology on genetics
-
Mardis ER, (2008) The impact of next-generation sequencing technology on genetics. Trends Genet 24: 133-141.
-
(2008)
Trends Genet
, vol.24
, pp. 133-141
-
-
Mardis, E.R.1
-
10
-
-
39649084637
-
Bioinformatics challenges of new sequencing technology
-
Pop M, Salzberg SL, (2008) Bioinformatics challenges of new sequencing technology. Trends Genet 24: 142-149.
-
(2008)
Trends Genet
, vol.24
, pp. 142-149
-
-
Pop, M.1
Salzberg, S.L.2
-
11
-
-
70449704529
-
Computational methods for discovering structural variation with next-generation sequencing
-
Medvedev P, Stanciu M, Brudno M, (2009) Computational methods for discovering structural variation with next-generation sequencing. Nat Methods 6: S13-20.
-
(2009)
Nat Methods
, vol.6
-
-
Medvedev, P.1
Stanciu, M.2
Brudno, M.3
-
12
-
-
79954672317
-
Genome structural variation discovery and genotyping
-
Alkan C, Coe BP, Eichler EE, (2011) Genome structural variation discovery and genotyping. Nat Rev Genet 12: 363-376.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 363-376
-
-
Alkan, C.1
Coe, B.P.2
Eichler, E.E.3
-
13
-
-
84863037350
-
Massively parallel sequencing approaches for characterization of structural variation
-
Koboldt DC, Larson DE, Chen K, Ding L, Wilson RK, (2012) Massively parallel sequencing approaches for characterization of structural variation. Methods Mol Biol 838: 369-384.
-
(2012)
Methods Mol Biol
, vol.838
, pp. 369-384
-
-
Koboldt, D.C.1
Larson, D.E.2
Chen, K.3
Ding, L.4
Wilson, R.K.5
-
14
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, et al. (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456: 53-59.
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
Balasubramanian, S.2
Swerdlow, H.P.3
Smith, G.P.4
Milton, J.5
-
15
-
-
55549097849
-
The diploid genome sequence of an Asian individual
-
Wang J, Wang W, Li R, Li Y, Tian G, et al. (2008) The diploid genome sequence of an Asian individual. Nature 456: 60-65.
-
(2008)
Nature
, vol.456
, pp. 60-65
-
-
Wang, J.1
Wang, W.2
Li, R.3
Li, Y.4
Tian, G.5
-
16
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, et al. (2008) The complete genome of an individual by massively parallel DNA sequencing. Nature 452: 872-876.
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
-
17
-
-
67650064593
-
Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes
-
Hormozdiari F, Alkan C, Eichler EE, Sahinalp SC, (2009) Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res 19: 1270-1278.
-
(2009)
Genome Res
, vol.19
, pp. 1270-1278
-
-
Hormozdiari, F.1
Alkan, C.2
Eichler, E.E.3
Sahinalp, S.C.4
-
18
-
-
77954205450
-
Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery
-
Hormozdiari F, Hajirasouliha I, Dao P, Hach F, Yorukoglu D, et al. (2010) Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery. Bioinformatics 26: i350-i357.
-
(2010)
Bioinformatics
, vol.26
-
-
Hormozdiari, F.1
Hajirasouliha, I.2
Dao, P.3
Hach, F.4
Yorukoglu, D.5
-
19
-
-
67649580757
-
MoDIL: detecting small indels from clone-end sequencing with mixtures of distributions
-
Lee S, Hormozdiari F, Alkan C, Brudno M, (2009) MoDIL: detecting small indels from clone-end sequencing with mixtures of distributions. Nat Methods 6: 473-474.
-
(2009)
Nat Methods
, vol.6
, pp. 473-474
-
-
Lee, S.1
Hormozdiari, F.2
Alkan, C.3
Brudno, M.4
-
20
-
-
69549116107
-
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation
-
Chen K, Wallis JW, McLellan MD, Larson DE, Kalicki JM, et al. (2009) BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods 6: 677-681.
-
(2009)
Nat Methods
, vol.6
, pp. 677-681
-
-
Chen, K.1
Wallis, J.W.2
McLellan, M.D.3
Larson, D.E.4
Kalicki, J.M.5
-
21
-
-
55549097836
-
Mapping short DNA sequencing reads and calling variants using mapping quality scores
-
Li H, Ruan J, Durbin R, (2008) Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res 18: 1851-1858.
-
(2008)
Genome Res
, vol.18
, pp. 1851-1858
-
-
Li, H.1
Ruan, J.2
Durbin, R.3
-
22
-
-
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
-
23
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, et al. (2008) Mapping and sequencing of structural variation from eight human genomes. Nature 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
-
24
-
-
79952194317
-
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale
-
Handsaker RE, Korn JM, Nemesh J, McCarroll SA, (2011) Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet 43: 269-276.
-
(2011)
Nat Genet
, vol.43
, pp. 269-276
-
-
Handsaker, R.E.1
Korn, J.M.2
Nemesh, J.3
McCarroll, S.A.4
-
25
-
-
0035998835
-
Model-based clustering, discriminant analysis, and density estimation
-
Fraley C, Raftery AE, (2002) Model-based clustering, discriminant analysis, and density estimation. Journal of the American Statistical Association 97: 611-631.
-
(2002)
Journal of the American Statistical Association
, vol.97
, pp. 611-631
-
-
Fraley, C.1
Raftery, A.E.2
-
26
-
-
78651271733
-
Integrative genomics viewer
-
Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, et al. (2011) Integrative genomics viewer. Nat Biotechnol 29: 24-26.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 24-26
-
-
Robinson, J.T.1
Thorvaldsdottir, H.2
Winckler, W.3
Guttman, M.4
Lander, E.S.5
-
27
-
-
33947705203
-
Which transposable elements are active in the human genome?
-
Mills RE, Bennett EA, Iskow RC, Devine SE, (2007) Which transposable elements are active in the human genome? Trends in Genetics 23: 183-191.
-
(2007)
Trends in Genetics
, vol.23
, pp. 183-191
-
-
Mills, R.E.1
Bennett, E.A.2
Iskow, R.C.3
Devine, S.E.4
-
28
-
-
52949093111
-
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
-
Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA, (2008) Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet 40: 1199-1203.
-
(2008)
Nat Genet
, vol.40
, pp. 1199-1203
-
-
Cooper, G.M.1
Zerr, T.2
Kidd, J.M.3
Eichler, E.E.4
Nickerson, D.A.5
-
29
-
-
0000120766
-
Estimating Dimension of a Model
-
Schwarz G, (1978) Estimating Dimension of a Model. Annals of Statistics 6: 461-464.
-
(1978)
Annals of Statistics
, vol.6
, pp. 461-464
-
-
Schwarz, G.1
|