-
1
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
10.1038/ng1416, 15286789
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet 2004, 36:949-951. 10.1038/ng1416, 15286789.
-
(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
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
3
-
-
33751329250
-
Global variation in copy number in the human genome
-
10.1038/nature05329, 2669898, 17122850
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, et al. Global variation in copy number in the human genome. Nature 2006, 444:444-454. 10.1038/nature05329, 2669898, 17122850.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
-
4
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
10.1038/ng1562, 15895083
-
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, et al. Fine-scale structural variation of the human genome. Nat Genet 2005, 37:727-732. 10.1038/ng1562, 15895083.
-
(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
Pertz, L.M.6
Haugen, E.7
Hayden, H.8
Albertson, D.9
Pinkel, D.10
-
5
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
10.1086/431652, 1226196, 15918152
-
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, et al. Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 2005, 77:78-88. 10.1086/431652, 1226196, 15918152.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 78-88
-
-
Sharp, A.J.1
Locke, D.P.2
McGrath, S.D.3
Cheng, Z.4
Bailey, J.A.5
Vallente, R.U.6
Pertz, L.M.7
Clark, R.A.8
Schwartz, S.9
Segraves, R.10
-
6
-
-
39749197456
-
Genotype, haplotype and copy-number variation in worldwide human populations
-
10.1038/nature06742, 18288195
-
Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, et al. Genotype, haplotype and copy-number variation in worldwide human populations. Nature 2008, 451:998-1003. 10.1038/nature06742, 18288195.
-
(2008)
Nature
, vol.451
, pp. 998-1003
-
-
Jakobsson, M.1
Scholz, S.W.2
Scheet, P.3
Gibbs, J.R.4
VanLiere, J.M.5
Fung, H.C.6
Szpiech, Z.A.7
Degnan, J.H.8
Wang, K.9
Guerreiro, R.10
-
7
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
10.1126/science.1098918, 15273396
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, et al. Large-scale copy number polymorphism in the human genome. Science 2004, 305:525-528. 10.1126/science.1098918, 15273396.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
-
8
-
-
33746741125
-
Copy number variation: new insights in genome diversity
-
10.1101/gr.3677206, 16809666
-
Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, et al. Copy number variation: new insights in genome diversity. Genome Res 2006, 16:949-961. 10.1101/gr.3677206, 16809666.
-
(2006)
Genome Res
, vol.16
, pp. 949-961
-
-
Freeman, J.L.1
Perry, G.H.2
Feuk, L.3
Redon, R.4
McCarroll, S.A.5
Altshuler, D.M.6
Aburatani, H.7
Jones, K.W.8
Tyler-Smith, C.9
Hurles, M.E.10
-
9
-
-
33744455443
-
Hotspots for copy number variation in chimpanzees and humans
-
10.1073/pnas.0602318103, 1472420, 16702545
-
Perry GH, Tchinda J, McGrath SD, Zhang J, Picker SR, Caceres AM, Iafrate AJ, Tyler-Smith C, Scherer SW, Eichler EE, et al. Hotspots for copy number variation in chimpanzees and humans. Proc Natl Acad Sci U S A 2006, 103:8006-8011. 10.1073/pnas.0602318103, 1472420, 16702545.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 8006-8011
-
-
Perry, G.H.1
Tchinda, J.2
McGrath, S.D.3
Zhang, J.4
Picker, S.R.5
Caceres, A.M.6
Iafrate, A.J.7
Tyler-Smith, C.8
Scherer, S.W.9
Eichler, E.E.10
-
10
-
-
55549143682
-
Copy number variation and evolution in humans and chimpanzees
-
10.1101/gr.082016.108, 2577862, 18775914
-
Perry GH, Yang F, Marques-Bonet T, Murphy C, Fitzgerald T, Lee AS, Hyland C, Stone AC, Hurles ME, Tyler-Smith C, et al. Copy number variation and evolution in humans and chimpanzees. Genome Res 2008, 18:1698-1710. 10.1101/gr.082016.108, 2577862, 18775914.
-
(2008)
Genome Res
, vol.18
, pp. 1698-1710
-
-
Perry, G.H.1
Yang, F.2
Marques-Bonet, T.3
Murphy, C.4
Fitzgerald, T.5
Lee, A.S.6
Hyland, C.7
Stone, A.C.8
Hurles, M.E.9
Tyler-Smith, C.10
-
11
-
-
41849091509
-
Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies
-
10.1093/hmg/ddn002, 18180252
-
Lee AS, Gutierrez-Arcelus M, Perry GH, Vallender EJ, Johnson WE, Miller GM, Korbel JO, Lee C. Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies. Hum Mol Genet 2008, 17:1127-1136. 10.1093/hmg/ddn002, 18180252.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 1127-1136
-
-
Lee, A.S.1
Gutierrez-Arcelus, M.2
Perry, G.H.3
Vallender, E.J.4
Johnson, W.E.5
Miller, G.M.6
Korbel, J.O.7
Lee, C.8
-
12
-
-
63449117467
-
Segmental copy number variation shapes tissue transcriptomes
-
10.1038/ng.345, 19270705
-
Henrichsen CN, Vinckenbosch N, Zollner S, Chaignat E, Pradervand S, Schutz F, Ruedi M, Kaessmann H, Reymond A. Segmental copy number variation shapes tissue transcriptomes. Nat Genet 2009, 41:424-429. 10.1038/ng.345, 19270705.
-
(2009)
Nat Genet
, vol.41
, pp. 424-429
-
-
Henrichsen, C.N.1
Vinckenbosch, N.2
Zollner, S.3
Chaignat, E.4
Pradervand, S.5
Schutz, F.6
Ruedi, M.7
Kaessmann, H.8
Reymond, A.9
-
13
-
-
34547664096
-
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
-
10.1371/journal.pgen.0010049, 1352149, 16444292
-
Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005, 1:e49. 10.1371/journal.pgen.0010049, 1352149, 16444292.
-
(2005)
PLoS Genet
, vol.1
-
-
Lupski, J.R.1
Stankiewicz, P.2
-
14
-
-
59149098800
-
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis
-
10.1038/ng.313, 3128734, 19169253
-
de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, et al. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet 2009, 41:211-215. 10.1038/ng.313, 3128734, 19169253.
-
(2009)
Nat Genet
, vol.41
, pp. 211-215
-
-
de Cid, R.1
Riveira-Munoz, E.2
Zeeuwen, P.L.3
Robarge, J.4
Liao, W.5
Dannhauser, E.N.6
Giardina, E.7
Stuart, P.E.8
Nair, R.9
Helms, C.10
-
15
-
-
34447569298
-
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
-
Beckmann JS, Estivill X, Antonarakis SE. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet 2007, 8:639-646.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 639-646
-
-
Beckmann, J.S.1
Estivill, X.2
Antonarakis, S.E.3
-
16
-
-
33847261476
-
The application of microarray technology to the analysis of the cancer genome
-
10.2174/156652407779940387, 17311536
-
Cowell JK, Hawthorn L. The application of microarray technology to the analysis of the cancer genome. Curr Mol Med 2007, 7:103-120. 10.2174/156652407779940387, 17311536.
-
(2007)
Curr Mol Med
, vol.7
, pp. 103-120
-
-
Cowell, J.K.1
Hawthorn, L.2
-
17
-
-
0026495364
-
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
-
10.1126/science.1359641, 1359641
-
Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992, 258:818-821. 10.1126/science.1359641, 1359641.
-
(1992)
Science
, vol.258
, pp. 818-821
-
-
Kallioniemi, A.1
Kallioniemi, O.P.2
Sudar, D.3
Rutovitz, D.4
Gray, J.W.5
Waldman, F.6
Pinkel, D.7
-
18
-
-
39149090682
-
CGH microarrays and cancer
-
10.1016/j.copbio.2007.11.004, 18162393
-
Kallioniemi A. CGH microarrays and cancer. Curr Opin Biotechnol 2008, 19:36-40. 10.1016/j.copbio.2007.11.004, 18162393.
-
(2008)
Curr Opin Biotechnol
, vol.19
, pp. 36-40
-
-
Kallioniemi, A.1
-
19
-
-
20044375763
-
Array comparative genomic hybridization and its applications in cancer
-
Pinkel D, Albertson DG. Array comparative genomic hybridization and its applications in cancer. Nat Genet 2005, 37(Suppl):S11-S17.
-
(2005)
Nat Genet
, vol.37
, Issue.SUPPL
-
-
Pinkel, D.1
Albertson, D.G.2
-
20
-
-
80053920983
-
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
-
10.1038/nature10406, 21881559
-
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011, 478:97-102. 10.1038/nature10406, 21881559.
-
(2011)
Nature
, vol.478
, pp. 97-102
-
-
Jacquemont, S.1
Reymond, A.2
Zufferey, F.3
Harewood, L.4
Walters, R.G.5
Kutalik, Z.6
Martinet, D.7
Shen, Y.8
Valsesia, A.9
Beckmann, N.D.10
-
21
-
-
76249116215
-
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
-
10.1038/nature08727, 2880448, 20130649
-
Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010, 463:671-675. 10.1038/nature08727, 2880448, 20130649.
-
(2010)
Nature
, vol.463
, pp. 671-675
-
-
Walters, R.G.1
Jacquemont, S.2
Valsesia, A.3
de Smith, A.J.4
Martinet, D.5
Andersson, J.6
Falchi, M.7
Chen, F.8
Andrieux, J.9
Lobbens, S.10
-
22
-
-
33751581929
-
[Health examination survey of the Lausanne population: first results of the CoLaus study]
-
2532-2523
-
Vollenweider P, Hayoz D, Preisig M, Pecoud A, Warterworht D, Mooser V, Paccaud F, Waeber G. [Health examination survey of the Lausanne population: first results of the CoLaus study]. Rev Med Suisse 2006, 2:2528-2530. 2532-2523.
-
(2006)
Rev Med Suisse
, vol.2
, pp. 2528-2530
-
-
Vollenweider, P.1
Hayoz, D.2
Preisig, M.3
Pecoud, A.4
Warterworht, D.5
Mooser, V.6
Paccaud, F.7
Waeber, G.8
-
23
-
-
85081452213
-
-
Affymetrix
-
Affymetrix www.affymetrix.com, Affymetrix.
-
-
-
-
24
-
-
67349085063
-
Genome-wide association study identifies eight loci associated with blood pressure
-
10.1038/ng.361, 2891673, 19430483
-
Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, Najjar SS, Zhao JH, Heath SC, Eyheramendy S, et al. Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 2009, 41:666-676. 10.1038/ng.361, 2891673, 19430483.
-
(2009)
Nat Genet
, vol.41
, pp. 666-676
-
-
Newton-Cheh, C.1
Johnson, T.2
Gateva, V.3
Tobin, M.D.4
Bochud, M.5
Coin, L.6
Najjar, S.S.7
Zhao, J.H.8
Heath, S.C.9
Eyheramendy, S.10
-
25
-
-
42649139571
-
Genome-wide association analysis identifies 20 loci that influence adult height
-
10.1038/ng.121, 2681221, 18391952
-
Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JR, Stevens S, Hall AS, et al. Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet 2008, 40:575-583. 10.1038/ng.121, 2681221, 18391952.
-
(2008)
Nat Genet
, vol.40
, pp. 575-583
-
-
Weedon, M.N.1
Lango, H.2
Lindgren, C.M.3
Wallace, C.4
Evans, D.M.5
Mangino, M.6
Freathy, R.M.7
Perry, J.R.8
Stevens, S.9
Hall, A.S.10
-
26
-
-
67651056502
-
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations
-
10.1371/journal.pgen.1000504, 2683940, 19503597
-
Kolz M, Johnson T, Sanna S, Teumer A, Vitart V, Perola M, Mangino M, Albrecht E, Wallace C, Farrall M, et al. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet 2009, 5:e1000504. 10.1371/journal.pgen.1000504, 2683940, 19503597.
-
(2009)
PLoS Genet
, vol.5
-
-
Kolz, M.1
Johnson, T.2
Sanna, S.3
Teumer, A.4
Vitart, V.5
Perola, M.6
Mangino, M.7
Albrecht, E.8
Wallace, C.9
Farrall, M.10
-
27
-
-
58149156287
-
Variants in MTNR1B influence fasting glucose levels
-
10.1038/ng.290, 2682768, 19060907
-
Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N, Thorleifsson G, Loos RJ, Manning AK, Jackson AU, Aulchenko Y, et al. Variants in MTNR1B influence fasting glucose levels. Nat Genet 2009, 41:77-81. 10.1038/ng.290, 2682768, 19060907.
-
(2009)
Nat Genet
, vol.41
, pp. 77-81
-
-
Prokopenko, I.1
Langenberg, C.2
Florez, J.C.3
Saxena, R.4
Soranzo, N.5
Thorleifsson, G.6
Loos, R.J.7
Manning, A.K.8
Jackson, A.U.9
Aulchenko, Y.10
-
28
-
-
44349142294
-
Common variants near MC4R are associated with fat mass, weight and risk of obesity
-
10.1038/ng.140, 2669167, 18454148
-
Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, et al. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 2008, 40:768-775. 10.1038/ng.140, 2669167, 18454148.
-
(2008)
Nat Genet
, vol.40
, pp. 768-775
-
-
Loos, R.J.1
Lindgren, C.M.2
Li, S.3
Wheeler, E.4
Zhao, J.H.5
Prokopenko, I.6
Inouye, M.7
Freathy, R.M.8
Attwood, A.P.9
Beckmann, J.S.10
-
29
-
-
38849166666
-
LDL-cholesterol concentrations: a genome-wide association study
-
10.1016/S0140-6736(08)60208-1, 2292820, 18262040
-
Sandhu MS, Waterworth DM, Debenham SL, Wheeler E, Papadakis K, Zhao JH, Song K, Yuan X, Johnson T, Ashford S, et al. LDL-cholesterol concentrations: a genome-wide association study. Lancet 2008, 371:483-491. 10.1016/S0140-6736(08)60208-1, 2292820, 18262040.
-
(2008)
Lancet
, vol.371
, pp. 483-491
-
-
Sandhu, M.S.1
Waterworth, D.M.2
Debenham, S.L.3
Wheeler, E.4
Papadakis, K.5
Zhao, J.H.6
Song, K.7
Yuan, X.8
Johnson, T.9
Ashford, S.10
-
30
-
-
77957947562
-
Hundreds of variants clustered in genomic loci and biological pathways affect human height
-
10.1038/nature09410, 2955183, 20881960
-
Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010, 467:832-838. 10.1038/nature09410, 2955183, 20881960.
-
(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
-
31
-
-
58149163142
-
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
-
10.1038/ng.287, 2695662, 19079261
-
Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 2009, 41:25-34. 10.1038/ng.287, 2695662, 19079261.
-
(2009)
Nat Genet
, vol.41
, pp. 25-34
-
-
Willer, C.J.1
Speliotes, E.K.2
Loos, R.J.3
Li, S.4
Lindgren, C.M.5
Heid, I.M.6
Berndt, S.I.7
Elliott, A.L.8
Jackson, A.U.9
Lamina, C.10
-
32
-
-
62649088108
-
Population analysis of large copy number variants and hotspots of human genetic disease
-
10.1016/j.ajhg.2008.12.014, 2668011, 19166990
-
Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009, 84:148-161. 10.1016/j.ajhg.2008.12.014, 2668011, 19166990.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 148-161
-
-
Itsara, A.1
Cooper, G.M.2
Baker, C.3
Girirajan, S.4
Li, J.5
Absher, D.6
Krauss, R.M.7
Myers, R.M.8
Ridker, P.M.9
Chasman, D.I.10
-
33
-
-
69749121852
-
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
-
10.1101/gr.083501.108, 2752118, 19592680
-
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009, 19:1682-1690. 10.1101/gr.083501.108, 2752118, 19592680.
-
(2009)
Genome Res
, vol.19
, pp. 1682-1690
-
-
Shaikh, T.H.1
Gai, X.2
Perin, J.C.3
Glessner, J.T.4
Xie, H.5
Murphy, K.6
O'Hara, R.7
Casalunovo, T.8
Conlin, L.K.9
D'Arcy, M.10
-
34
-
-
79960231294
-
Cn.FARMS: a latent variable model to detect copy number variations in microarray data with a low false discovery rate
-
10.1093/nar/gkr197, 3130288, 21486749
-
Clevert DA, Mitterecker A, Mayr A, Klambauer G, Tuefferd M, De Bondt A, Talloen W, Gohlmann H, Hochreiter S. cn.FARMS: a latent variable model to detect copy number variations in microarray data with a low false discovery rate. Nucleic Acids Res 2011, 39:e79. 10.1093/nar/gkr197, 3130288, 21486749.
-
(2011)
Nucleic Acids Res
, vol.39
-
-
Clevert, D.A.1
Mitterecker, A.2
Mayr, A.3
Klambauer, G.4
Tuefferd, M.5
De Bondt, A.6
Talloen, W.7
Gohlmann, H.8
Hochreiter, S.9
-
35
-
-
38849183559
-
Sparse representation and Bayesian detection of genome copy number alterations from microarray data
-
10.1093/bioinformatics/btm601, 2704547, 18203770
-
Pique-Regi R, Monso-Varona J, Ortega A, Seeger RC, Triche TJ, Asgharzadeh S. Sparse representation and Bayesian detection of genome copy number alterations from microarray data. Bioinformatics 2008, 24:309-318. 10.1093/bioinformatics/btm601, 2704547, 18203770.
-
(2008)
Bioinformatics
, vol.24
, pp. 309-318
-
-
Pique-Regi, R.1
Monso-Varona, J.2
Ortega, A.3
Seeger, R.C.4
Triche, T.J.5
Asgharzadeh, S.6
-
36
-
-
34147104969
-
A faster circular binary segmentation algorithm for the analysis of array CGH data
-
10.1093/bioinformatics/btl646, 17234643
-
Venkatraman ES, Olshen AB. A faster circular binary segmentation algorithm for the analysis of array CGH data. Bioinformatics 2007, 23:657-663. 10.1093/bioinformatics/btl646, 17234643.
-
(2007)
Bioinformatics
, vol.23
, pp. 657-663
-
-
Venkatraman, E.S.1
Olshen, A.B.2
-
37
-
-
3543105225
-
Circular binary segmentation for the analysis of array-based DNA copy number data
-
10.1093/biostatistics/kxh008, 15475419
-
Olshen AB, Venkatraman ES, Lucito R, Wigler M. Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics 2004, 5:557-572. 10.1093/biostatistics/kxh008, 15475419.
-
(2004)
Biostatistics
, vol.5
, pp. 557-572
-
-
Olshen, A.B.1
Venkatraman, E.S.2
Lucito, R.3
Wigler, M.4
-
38
-
-
33751345434
-
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays
-
10.1101/gr.5629106, 1665641, 17122084
-
Komura D, Shen F, Ishikawa S, Fitch KR, Chen W, Zhang J, Liu G, Ihara S, Nakamura H, Hurles ME, et al. Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res 2006, 16:1575-1584. 10.1101/gr.5629106, 1665641, 17122084.
-
(2006)
Genome Res
, vol.16
, pp. 1575-1584
-
-
Komura, D.1
Shen, F.2
Ishikawa, S.3
Fitch, K.R.4
Chen, W.5
Zhang, J.6
Liu, G.7
Ihara, S.8
Nakamura, H.9
Hurles, M.E.10
-
39
-
-
10844232112
-
Whole genome DNA copy number changes identified by high density oligonucleotide arrays
-
Huang J, Wei W, Zhang J, Liu G, Bignell GR, Stratton MR, Futreal PA, Wooster R, Jones KW, Shapero MH. Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Hum Genomics 2004, 1:287-299.
-
(2004)
Hum Genomics
, vol.1
, pp. 287-299
-
-
Huang, J.1
Wei, W.2
Zhang, J.3
Liu, G.4
Bignell, G.R.5
Stratton, M.R.6
Futreal, P.A.7
Wooster, R.8
Jones, K.W.9
Shapero, M.H.10
-
40
-
-
22244453416
-
A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays
-
10.1158/0008-5472.CAN-05-0465, 16024607
-
Nannya Y, Sanada M, Nakazaki K, Hosoya N, Wang L, Hangaishi A, Kurokawa M, Chiba S, Bailey DK, Kennedy GC, Ogawa S. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 2005, 65:6071-6079. 10.1158/0008-5472.CAN-05-0465, 16024607.
-
(2005)
Cancer Res
, vol.65
, pp. 6071-6079
-
-
Nannya, Y.1
Sanada, M.2
Nakazaki, K.3
Hosoya, N.4
Wang, L.5
Hangaishi, A.6
Kurokawa, M.7
Chiba, S.8
Bailey, D.K.9
Kennedy, G.C.10
Ogawa, S.11
-
41
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
10.1038/ng.238, 18776908
-
McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008, 40:1166-1174. 10.1038/ng.238, 18776908.
-
(2008)
Nat Genet
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
Shapero, M.H.7
de Bakker, P.I.8
Maller, J.B.9
Kirby, A.10
-
42
-
-
72649090466
-
PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data
-
10.1093/biostatistics/kxp045, 2800165, 19837654
-
Greenman CD, Bignell G, Butler A, Edkins S, Hinton J, Beare D, Swamy S, Santarius T, Chen L, Widaa S, et al. PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data. Biostatistics 2010, 11:164-175. 10.1093/biostatistics/kxp045, 2800165, 19837654.
-
(2010)
Biostatistics
, vol.11
, pp. 164-175
-
-
Greenman, C.D.1
Bignell, G.2
Butler, A.3
Edkins, S.4
Hinton, J.5
Beare, D.6
Swamy, S.7
Santarius, T.8
Chen, L.9
Widaa, S.10
-
43
-
-
77956880496
-
A multilevel model to address batch effects in copy number estimation using SNP arrays
-
3006124, 20625178
-
Scharpf RB, Ruczinski I, Carvalho B, Doan B, Chakravarti A, Irizarry RA. A multilevel model to address batch effects in copy number estimation using SNP arrays. Biostatistics 2010, 12:33-50. 3006124, 20625178.
-
(2010)
Biostatistics
, vol.12
, pp. 33-50
-
-
Scharpf, R.B.1
Ruczinski, I.2
Carvalho, B.3
Doan, B.4
Chakravarti, A.5
Irizarry, R.A.6
-
44
-
-
70349874808
-
R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips
-
10.1093/bioinformatics/btp470, 2752620, 19661241
-
Ritchie ME, Carvalho BS, Hetrick KN, Tavare S, Irizarry RA. R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips. Bioinformatics 2009, 25:2621-2623. 10.1093/bioinformatics/btp470, 2752620, 19661241.
-
(2009)
Bioinformatics
, vol.25
, pp. 2621-2623
-
-
Ritchie, M.E.1
Carvalho, B.S.2
Hetrick, K.N.3
Tavare, S.4
Irizarry, R.A.5
-
45
-
-
77954733893
-
CnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs
-
10.1038/nmeth.1466, 20512141
-
Coin LJ, Asher JE, Walters RG, Moustafa JS, de Smith AJ, Sladek R, Balding DJ, Froguel P, Blakemore AI. cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs. Nat Methods 2010, 7:541-546. 10.1038/nmeth.1466, 20512141.
-
(2010)
Nat Methods
, vol.7
, pp. 541-546
-
-
Coin, L.J.1
Asher, J.E.2
Walters, R.G.3
Moustafa, J.S.4
de Smith, A.J.5
Sladek, R.6
Balding, D.J.7
Froguel, P.8
Blakemore, A.I.9
-
46
-
-
35948984173
-
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
10.1101/gr.6861907, 2045149, 17921354
-
Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007, 17:1665-1674. 10.1101/gr.6861907, 2045149, 17921354.
-
(2007)
Genome Res
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
Grant, S.F.6
Hakonarson, H.7
Bucan, M.8
-
47
-
-
34247877877
-
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
-
10.1093/nar/gkm076, 1874617, 17341461
-
Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P, Bassett AS, Seller A, Holmes CC, Ragoussis J. QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res 2007, 35:2013-2025. 10.1093/nar/gkm076, 1874617, 17341461.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 2013-2025
-
-
Colella, S.1
Yau, C.2
Taylor, J.M.3
Mirza, G.4
Butler, H.5
Clouston, P.6
Bassett, A.S.7
Seller, A.8
Holmes, C.C.9
Ragoussis, J.10
-
48
-
-
33746972191
-
Allele-specific amplification in cancer revealed by SNP array analysis
-
10.1371/journal.pcbi.0010065, 1289392, 16322765
-
LaFramboise T, Weir BA, Zhao X, Beroukhim R, Li C, Harrington D, Sellers WR, Meyerson M. Allele-specific amplification in cancer revealed by SNP array analysis. PLoS Comput Biol 2005, 1:e65. 10.1371/journal.pcbi.0010065, 1289392, 16322765.
-
(2005)
PLoS Comput Biol
, vol.1
-
-
LaFramboise, T.1
Weir, B.A.2
Zhao, X.3
Beroukhim, R.4
Li, C.5
Harrington, D.6
Sellers, W.R.7
Meyerson, M.8
-
49
-
-
44249091849
-
Automating dChip: toward reproducible sharing of microarray data analysis
-
10.1186/1471-2105-9-231, 2390544, 18466620
-
Li C. Automating dChip: toward reproducible sharing of microarray data analysis. BMC Bioinformatics 2008, 9:231. 10.1186/1471-2105-9-231, 2390544, 18466620.
-
(2008)
BMC Bioinformatics
, vol.9
, pp. 231
-
-
Li, C.1
-
50
-
-
35948984173
-
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
10.1101/gr.6861907, 2045149, 17921354
-
Wang K. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007, 17:1665-1674. 10.1101/gr.6861907, 2045149, 17921354.
-
(2007)
Genome Res
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
-
51
-
-
79958162661
-
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
-
10.1038/nbt.1852, 3270583, 21552272
-
Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, et al. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol 2011, 29:512-520. 10.1038/nbt.1852, 3270583, 21552272.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 512-520
-
-
Pinto, D.1
Darvishi, K.2
Shi, X.3
Rajan, D.4
Rigler, D.5
Fitzgerald, T.6
Lionel, A.C.7
Thiruvahindrapuram, B.8
Macdonald, J.R.9
Mills, R.10
-
52
-
-
79251545821
-
Accuracy of CNV Detection from GWAS Data
-
10.1371/journal.pone.0014511, 3020939, 21249187
-
Zhang D, Qian Y, Akula N, Alliey-Rodriguez N, Tang J, Gershon ES, Liu C. Accuracy of CNV Detection from GWAS Data. PLoS One 2011, 6:e14511. 10.1371/journal.pone.0014511, 3020939, 21249187.
-
(2011)
PLoS One
, vol.6
-
-
Zhang, D.1
Qian, Y.2
Akula, N.3
Alliey-Rodriguez, N.4
Tang, J.5
Gershon, E.S.6
Liu, C.7
-
53
-
-
78651259023
-
The effect of algorithms on copy number variant detection
-
10.1371/journal.pone.0014456, 3012691, 21209939
-
Tsuang DW, Millard SP, Ely B, Chi P, Wang K, Raskind WH, Kim S, Brkanac Z, Yu CE. The effect of algorithms on copy number variant detection. PLoS One 2010, 5:e14456. 10.1371/journal.pone.0014456, 3012691, 21209939.
-
(2010)
PLoS One
, vol.5
-
-
Tsuang, D.W.1
Millard, S.P.2
Ely, B.3
Chi, P.4
Wang, K.5
Raskind, W.H.6
Kim, S.7
Brkanac, Z.8
Yu, C.E.9
-
54
-
-
52949085789
-
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
-
10.1038/ng.237, 2756534, 18776909
-
Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, Cawley S, Hubbell E, Veitch J, Collins PJ, Darvishi K, et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008, 40:1253-1260. 10.1038/ng.237, 2756534, 18776909.
-
(2008)
Nat Genet
, vol.40
, pp. 1253-1260
-
-
Korn, J.M.1
Kuruvilla, F.G.2
McCarroll, S.A.3
Wysoker, A.4
Nemesh, J.5
Cawley, S.6
Hubbell, E.7
Veitch, J.8
Collins, P.J.9
Darvishi, K.10
-
55
-
-
65549107341
-
Joint estimation of copy number variation and reference intensities on multiple DNA arrays using GADA
-
10.1093/bioinformatics/btp119, 2732310, 19276152
-
Pique-Regi R, Ortega A, Asgharzadeh S. Joint estimation of copy number variation and reference intensities on multiple DNA arrays using GADA. Bioinformatics 2009, 25:1223-1230. 10.1093/bioinformatics/btp119, 2732310, 19276152.
-
(2009)
Bioinformatics
, vol.25
, pp. 1223-1230
-
-
Pique-Regi, R.1
Ortega, A.2
Asgharzadeh, S.3
-
56
-
-
79954503631
-
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma
-
10.1371/journal.pone.0018369, 3072964, 21494657
-
Valsesia A, Rimoldi D, Martinet D, Ibberson M, Benaglio P, Quadroni M, Waridel P, Gaillard M, Pidoux M, Rapin B, et al. Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma. PLoS One 2011, 6:e18369. 10.1371/journal.pone.0018369, 3072964, 21494657.
-
(2011)
PLoS One
, vol.6
-
-
Valsesia, A.1
Rimoldi, D.2
Martinet, D.3
Ibberson, M.4
Benaglio, P.5
Quadroni, M.6
Waridel, P.7
Gaillard, M.8
Pidoux, M.9
Rapin, B.10
-
57
-
-
42949174747
-
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization
-
10.1186/gb-2007-8-10-r228, 2246302, 17961237
-
Marioni JC, Thorne NP, Valsesia A, Fitzgerald T, Redon R, Fiegler H, Andrews TD, Stranger BE, Lynch AG, Dermitzakis ET, et al. Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization. Genome Biol 2007, 8:R228. 10.1186/gb-2007-8-10-r228, 2246302, 17961237.
-
(2007)
Genome Biol
, vol.8
-
-
Marioni, J.C.1
Thorne, N.P.2
Valsesia, A.3
Fitzgerald, T.4
Redon, R.5
Fiegler, H.6
Andrews, T.D.7
Stranger, B.E.8
Lynch, A.G.9
Dermitzakis, E.T.10
-
58
-
-
33645894496
-
Detection of gene copy number changes in CGH microarrays using a spatially correlated mixture model
-
10.1093/bioinformatics/btl035, 16455750
-
Broet P, Richardson S. Detection of gene copy number changes in CGH microarrays using a spatially correlated mixture model. Bioinformatics 2006, 22:911-918. 10.1093/bioinformatics/btl035, 16455750.
-
(2006)
Bioinformatics
, vol.22
, pp. 911-918
-
-
Broet, P.1
Richardson, S.2
-
59
-
-
52949129447
-
A robust statistical method for case-control association testing with copy number variation
-
10.1038/ng.206, 2784596, 18776912
-
Barnes C, Plagnol V, Fitzgerald T, Redon R, Marchini J, Clayton D, Hurles ME. A robust statistical method for case-control association testing with copy number variation. Nat Genet 2008, 40:1245-1252. 10.1038/ng.206, 2784596, 18776912.
-
(2008)
Nat Genet
, vol.40
, pp. 1245-1252
-
-
Barnes, C.1
Plagnol, V.2
Fitzgerald, T.3
Redon, R.4
Marchini, J.5
Clayton, D.6
Hurles, M.E.7
-
60
-
-
77953974065
-
Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays
-
10.1093/nar/gkq040, 2875020, 20142258
-
Dellinger AE, Saw SM, Goh LK, Seielstad M, Young TL, Li YJ. Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. Nucleic Acids Res 2010, 38:e105. 10.1093/nar/gkq040, 2875020, 20142258.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Dellinger, A.E.1
Saw, S.M.2
Goh, L.K.3
Seielstad, M.4
Young, T.L.5
Li, Y.J.6
-
61
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
10.1038/nature08516, 3330748, 19812545
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, et al. Origins and functional impact of copy number variation in the human genome. Nature 2010, 464:704-712. 10.1038/nature08516, 3330748, 19812545.
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
-
62
-
-
34548292504
-
PLINK: a tool set for whole-genome association and population-based linkage analyses
-
10.1086/519795, 1950838, 17701901
-
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81:559-575. 10.1086/519795, 1950838, 17701901.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
Bender, D.6
Maller, J.7
Sklar, P.8
de Bakker, P.I.9
Daly, M.J.10
Sham, P.C.11
-
63
-
-
27544483495
-
Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data
-
10.1093/bioinformatics/bti611, 2819184, 16081473
-
Lai WR, Johnson MD, Kucherlapati R, Park PJ. Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data. Bioinformatics 2005, 21:3763-3770. 10.1093/bioinformatics/bti611, 2819184, 16081473.
-
(2005)
Bioinformatics
, vol.21
, pp. 3763-3770
-
-
Lai, W.R.1
Johnson, M.D.2
Kucherlapati, R.3
Park, P.J.4
-
64
-
-
27944455289
-
A comparison study: applying segmentation to array CGH data for downstream analyses
-
10.1093/bioinformatics/bti677, 16159913
-
Willenbrock H, Fridlyand J. A comparison study: applying segmentation to array CGH data for downstream analyses. Bioinformatics 2005, 21:4084-4091. 10.1093/bioinformatics/bti677, 16159913.
-
(2005)
Bioinformatics
, vol.21
, pp. 4084-4091
-
-
Willenbrock, H.1
Fridlyand, J.2
-
65
-
-
0032251894
-
Convergence Properties of the Nelder-Mead Simplex Method in Low Dimensions
-
Lagarias JC, Reeds JA, Wright MH, Wright PE. Convergence Properties of the Nelder-Mead Simplex Method in Low Dimensions. SIAM J on Optimization 1998, 9:112-147.
-
(1998)
SIAM J on Optimization
, vol.9
, pp. 112-147
-
-
Lagarias, J.C.1
Reeds, J.A.2
Wright, M.H.3
Wright, P.E.4
-
66
-
-
34548569318
-
A maximum-likelihood method for the estimation of pairwise relatedness in structured populations
-
10.1534/genetics.106.063149, 1893072, 17339212
-
Anderson AD, Weir BS. A maximum-likelihood method for the estimation of pairwise relatedness in structured populations. Genetics 2007, 176:421-440. 10.1534/genetics.106.063149, 1893072, 17339212.
-
(2007)
Genetics
, vol.176
, pp. 421-440
-
-
Anderson, A.D.1
Weir, B.S.2
-
67
-
-
0037357345
-
Maximum-likelihood estimation of relatedness
-
1462494, 12663552
-
Milligan BG. Maximum-likelihood estimation of relatedness. Genetics 2003, 163:1153-1167. 1462494, 12663552.
-
(2003)
Genetics
, vol.163
, pp. 1153-1167
-
-
Milligan, B.G.1
-
68
-
-
33747852306
-
Performance of marker-based relatedness estimators in natural populations of outbred vertebrates
-
10.1534/genetics.106.057331, 1569738, 16783017
-
Csillery K, Johnson T, Beraldi D, Clutton-Brock T, Coltman D, Hansson B, Spong G, Pemberton JM. Performance of marker-based relatedness estimators in natural populations of outbred vertebrates. Genetics 2006, 173:2091-2101. 10.1534/genetics.106.057331, 1569738, 16783017.
-
(2006)
Genetics
, vol.173
, pp. 2091-2101
-
-
Csillery, K.1
Johnson, T.2
Beraldi, D.3
Clutton-Brock, T.4
Coltman, D.5
Hansson, B.6
Spong, G.7
Pemberton, J.M.8
-
69
-
-
70349592269
-
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
-
10.1038/ng.442, 19734901
-
van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009, 41:1083-1087. 10.1038/ng.442, 19734901.
-
(2009)
Nat Genet
, vol.41
, pp. 1083-1087
-
-
van Es, M.A.1
Veldink, J.H.2
Saris, C.G.3
Blauw, H.M.4
van Vught, P.W.5
Birve, A.6
Lemmens, R.7
Schelhaas, H.J.8
Groen, E.J.9
Huisman, M.H.10
-
70
-
-
70350644759
-
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
-
10.1038/ng.467, 3108459, 19820697
-
Soranzo N, Spector TD, Mangino M, Kuhnel B, Rendon A, Teumer A, Willenborg C, Wright B, Chen L, Li M, et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet 2009, 41:1182-1190. 10.1038/ng.467, 3108459, 19820697.
-
(2009)
Nat Genet
, vol.41
, pp. 1182-1190
-
-
Soranzo, N.1
Spector, T.D.2
Mangino, M.3
Kuhnel, B.4
Rendon, A.5
Teumer, A.6
Willenborg, C.7
Wright, B.8
Chen, L.9
Li, M.10
-
71
-
-
70350646912
-
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies
-
10.1038/ng.446, 2783489, 19801982
-
Rivadeneira F, Styrkarsdottir U, Estrada K, Halldorsson BV, Hsu YH, Richards JB, Zillikens MC, Kavvoura FK, Amin N, Aulchenko YS, et al. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet 2009, 41:1199-1206. 10.1038/ng.446, 2783489, 19801982.
-
(2009)
Nat Genet
, vol.41
, pp. 1199-1206
-
-
Rivadeneira, F.1
Styrkarsdottir, U.2
Estrada, K.3
Halldorsson, B.V.4
Hsu, Y.H.5
Richards, J.B.6
Zillikens, M.C.7
Kavvoura, F.K.8
Amin, N.9
Aulchenko, Y.S.10
-
72
-
-
39749159112
-
Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer
-
10.1038/ng.89, 18264098
-
Gudmundsson J, Sulem P, Rafnar T, Bergthorsson JT, Manolescu A, Gudbjartsson D, Agnarsson BA, Sigurdsson A, Benediktsdottir KR, Blondal T, et al. Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet 2008, 40:281-283. 10.1038/ng.89, 18264098.
-
(2008)
Nat Genet
, vol.40
, pp. 281-283
-
-
Gudmundsson, J.1
Sulem, P.2
Rafnar, T.3
Bergthorsson, J.T.4
Manolescu, A.5
Gudbjartsson, D.6
Agnarsson, B.A.7
Sigurdsson, A.8
Benediktsdottir, K.R.9
Blondal, T.10
-
73
-
-
70349545839
-
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
-
10.1038/ng.450, 2846760, 19767753
-
Eeles RA, Kote-Jarai Z, Al Olama AA, Giles GG, Guy M, Severi G, Muir K, Hopper JL, Henderson BE, Haiman CA, et al. Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet 2009, 41:1116-1121. 10.1038/ng.450, 2846760, 19767753.
-
(2009)
Nat Genet
, vol.41
, pp. 1116-1121
-
-
Eeles, R.A.1
Kote-Jarai, Z.2
Al Olama, A.A.3
Giles, G.G.4
Guy, M.5
Severi, G.6
Muir, K.7
Hopper, J.L.8
Henderson, B.E.9
Haiman, C.A.10
-
74
-
-
39749118602
-
Multiple loci identified in a genome-wide association study of prostate cancer
-
10.1038/ng.91, 18264096
-
Thomas G, Jacobs KB, Yeager M, Kraft P, Wacholder S, Orr N, Yu K, Chatterjee N, Welch R, Hutchinson A, et al. Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet 2008, 40:310-315. 10.1038/ng.91, 18264096.
-
(2008)
Nat Genet
, vol.40
, pp. 310-315
-
-
Thomas, G.1
Jacobs, K.B.2
Yeager, M.3
Kraft, P.4
Wacholder, S.5
Orr, N.6
Yu, K.7
Chatterjee, N.8
Welch, R.9
Hutchinson, A.10
-
75
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
3330748, 19812545
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, et al. Origins and functional impact of copy number variation in the human genome. Nature 2009, 464:704-712. 3330748, 19812545.
-
(2009)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
-
76
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
10.1038/nature09534, 3042601, 20981092, 1000 Genomes Project Consortium
-
1000 Genomes Project Consortium A map of human genome variation from population-scale sequencing. Nature 2010, 467:1061-1073. 10.1038/nature09534, 3042601, 20981092, 1000 Genomes Project Consortium.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
77
-
-
55549097849
-
The diploid genome sequence of an Asian individual
-
10.1038/nature07484, 2716080, 18987735
-
Wang J, Wang W, Li R, Li Y, Tian G, Goodman L, Fan W, Zhang J, Li J, Guo Y, et al. The diploid genome sequence of an Asian individual. Nature 2008, 456:60-65. 10.1038/nature07484, 2716080, 18987735.
-
(2008)
Nature
, vol.456
, pp. 60-65
-
-
Wang, J.1
Wang, W.2
Li, R.3
Li, Y.4
Tian, G.5
Goodman, L.6
Fan, W.7
Zhang, J.8
Li, J.9
Guo, Y.10
-
78
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
10.1038/nature09708, 3077050, 21293372
-
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, et al. Mapping copy number variation by population-scale genome sequencing. Nature 2011, 470:59-65. 10.1038/nature09708, 3077050, 21293372.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
Alkan, C.6
Abyzov, A.7
Yoon, S.C.8
Ye, K.9
Cheetham, R.K.10
-
79
-
-
78049412267
-
Diversity of human copy number variation and multicopy genes
-
10.1126/science.1197005, 3020103, 21030649
-
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, Eichler EE. Diversity of human copy number variation and multicopy genes. Science 2010, 330:641-646. 10.1126/science.1197005, 3020103, 21030649.
-
(2010)
Science
, vol.330
, pp. 641-646
-
-
Sudmant, P.H.1
Kitzman, J.O.2
Antonacci, F.3
Alkan, C.4
Malig, M.5
Tsalenko, A.6
Sampas, N.7
Bruhn, L.8
Shendure, J.9
Eichler, E.E.10
-
80
-
-
35648976118
-
The diploid genome sequence of an individual human
-
10.1371/journal.pbio.0050254, 1964779, 17803354
-
Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, et al. The diploid genome sequence of an individual human. PLoS Biol 2007, 5:e254. 10.1371/journal.pbio.0050254, 1964779, 17803354.
-
(2007)
PLoS Biol
, vol.5
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
Feuk, L.4
Halpern, A.L.5
Walenz, B.P.6
Axelrod, N.7
Huang, J.8
Kirkness, E.F.9
Denisov, G.10
-
81
-
-
84861400043
-
Cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate
-
10.1093/nar/gks003, 3351174, 22302147
-
Klambauer G, Schwarzbauer K, Mayr A, Clevert DA, Mitterecker A, Bodenhofer U, Hochreiter S. cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. Nucleic Acids Res 2012, 40:e69. 10.1093/nar/gks003, 3351174, 22302147.
-
(2012)
Nucleic Acids Res
, vol.40
-
-
Klambauer, G.1
Schwarzbauer, K.2
Mayr, A.3
Clevert, D.A.4
Mitterecker, A.5
Bodenhofer, U.6
Hochreiter, S.7
-
82
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2010, 43:491-498.
-
(2010)
Nat Genet
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
Hartl, C.6
Philippakis, A.A.7
del Angel, G.8
Rivas, M.A.9
Hanna, M.10
-
83
-
-
69749122557
-
Sensitive and accurate detection of copy number variants using read depth of coverage
-
10.1101/gr.092981.109, 2752127, 19657104
-
Yoon S, Xuan Z, Makarov V, Ye K, Sebat J. Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res 2009, 19:1586-1592. 10.1101/gr.092981.109, 2752127, 19657104.
-
(2009)
Genome Res
, vol.19
, pp. 1586-1592
-
-
Yoon, S.1
Xuan, Z.2
Makarov, V.3
Ye, K.4
Sebat, J.5
-
84
-
-
70350694443
-
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
-
10.1093/bioinformatics/btp394, 2781750, 19561018
-
Ye K, Schulz MH, Long Q, Apweiler R, Ning Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 2009, 25:2865-2871. 10.1093/bioinformatics/btp394, 2781750, 19561018.
-
(2009)
Bioinformatics
, vol.25
, pp. 2865-2871
-
-
Ye, K.1
Schulz, M.H.2
Long, Q.3
Apweiler, R.4
Ning, Z.5
-
85
-
-
70449704529
-
Computational methods for discovering structural variation with next-generation sequencing
-
10.1038/nmeth.1374, 19844226
-
Medvedev P, Stanciu M, Brudno M. Computational methods for discovering structural variation with next-generation sequencing. Nat Methods 2009, 6:S13-S20. 10.1038/nmeth.1374, 19844226.
-
(2009)
Nat Methods
, vol.6
-
-
Medvedev, P.1
Stanciu, M.2
Brudno, M.3
-
86
-
-
67650064593
-
Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes
-
10.1101/gr.088633.108, 2704429, 19447966
-
Hormozdiari F, Alkan C, Eichler EE, Sahinalp SC. Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res 2009, 19:1270-1278. 10.1101/gr.088633.108, 2704429, 19447966.
-
(2009)
Genome Res
, vol.19
, pp. 1270-1278
-
-
Hormozdiari, F.1
Alkan, C.2
Eichler, E.E.3
Sahinalp, S.C.4
-
87
-
-
69549116107
-
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation
-
10.1038/nmeth.1363, 19668202
-
Chen K, Wallis JW, McLellan MD, Larson DE, Kalicki JM, Pohl CS, McGrath SD, Wendl MC, Zhang Q, Locke DP, et al. BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods 2009, 6:677-681. 10.1038/nmeth.1363, 19668202.
-
(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
Pohl, C.S.6
McGrath, S.D.7
Wendl, M.C.8
Zhang, Q.9
Locke, D.P.10
-
88
-
-
42449133365
-
The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome
-
10.1186/1471-2261-8-6, 2311269, 18366642
-
Firmann M, Mayor V, Vidal PM, Bochud M, Pecoud A, Hayoz D, Paccaud F, Preisig M, Song KS, Yuan X, et al. The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome. BMC Cardiovasc Disord 2008, 8:6. 10.1186/1471-2261-8-6, 2311269, 18366642.
-
(2008)
BMC Cardiovasc Disord
, vol.8
, pp. 6
-
-
Firmann, M.1
Mayor, V.2
Vidal, P.M.3
Bochud, M.4
Pecoud, A.5
Hayoz, D.6
Paccaud, F.7
Preisig, M.8
Song, K.S.9
Yuan, X.10
-
89
-
-
79959503826
-
The International HapMap Project
-
10.1038/nature02168, 14685227, The International HapMap Consortium
-
The International HapMap Consortium The International HapMap Project. Nature 2003, 426:789-796. 10.1038/nature02168, 14685227, The International HapMap Consortium.
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
91
-
-
40749162839
-
Estimation and assessment of raw copy numbers at the single locus level
-
10.1093/bioinformatics/btn016, 18204055
-
Bengtsson H, Irizarry R, Carvalho B, Speed TP. Estimation and assessment of raw copy numbers at the single locus level. Bioinformatics 2008, 24:759-767. 10.1093/bioinformatics/btn016, 18204055.
-
(2008)
Bioinformatics
, vol.24
, pp. 759-767
-
-
Bengtsson, H.1
Irizarry, R.2
Carvalho, B.3
Speed, T.P.4
-
92
-
-
63549083845
-
A single-sample method for normalizing and combining full-resolution copy numbers from multiple platforms, labs and analysis methods
-
10.1093/bioinformatics/btp074, 2660872, 19193730
-
Bengtsson H, Ray A, Spellman P, Speed TP. A single-sample method for normalizing and combining full-resolution copy numbers from multiple platforms, labs and analysis methods. Bioinformatics 2009, 25:861-867. 10.1093/bioinformatics/btp074, 2660872, 19193730.
-
(2009)
Bioinformatics
, vol.25
, pp. 861-867
-
-
Bengtsson, H.1
Ray, A.2
Spellman, P.3
Speed, T.P.4
-
93
-
-
85081449616
-
-
Illumina
-
Illumina www.illumina.com, Illumina.
-
-
-
|