-
1
-
-
0035895505
-
The sequence of the human genome
-
Venter, J.C. et al. The sequence of the human genome. Science 291, 1304-1351 (2001).
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
-
2
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
DOI 10.1038/35057062
-
Lander, E.S. et al.; International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001). (Pubitemid 32165345)
-
(2001)
Nature
, vol.409
, Issue.6822
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
Devon, K.7
Dewar, K.8
Doyle, M.9
Fitzhugh, W.10
Funke, R.11
Gage, D.12
Harris, K.13
Heaford, A.14
Howland, J.15
Kann, L.16
Lehoczky, J.17
Levine, R.18
McEwan, P.19
McKernan, K.20
Meldrim, J.21
Mesirov, J.P.22
Miranda, C.23
Morris, W.24
Naylor, J.25
Raymond, C.26
Rosetti, M.27
Santos, R.28
Sheridan, A.29
Sougnez, C.30
Stange-Thomann, N.31
Stojanovic, N.32
Subramanian, A.33
Wyman, D.34
Rogers, J.35
Sulston, J.36
Ainscough, R.37
Beck, S.38
Bentley, D.39
Burton, J.40
Clee, C.41
Carter, N.42
Coulson, A.43
Deadman, R.44
Deloukas, P.45
Dunham, A.46
Dunham, I.47
Durbin, R.48
French, L.49
Grafham, D.50
Gregory, S.51
Hubbard, T.52
Humphray, S.53
Hunt, A.54
Jones, M.55
Lloyd, C.56
McMurray, A.57
Matthews, L.58
Mercer, S.59
Milne, S.60
Mullikin, J.C.61
Mungall, A.62
Plumb, R.63
Ross, M.64
Shownkeen, R.65
Sims, S.66
Waterston, R.H.67
Wilson, R.K.68
Hillier, L.W.69
McPherson, J.D.70
Marra, M.A.71
Mardis, E.R.72
Fulton, L.A.73
Chinwalla, A.T.74
Pepin, K.H.75
Gish, W.R.76
Chissoe, S.L.77
Wendl, M.C.78
Delehaunty, K.D.79
Miner, T.L.80
Delehaunty, A.81
Kramer, J.B.82
Cook, L.L.83
Fulton, R.S.84
Johnson, D.L.85
Minx, P.J.86
Clifton, S.W.87
Hawkins, T.88
Branscomb, E.89
Predki, P.90
Richardson, P.91
Wenning, S.92
Slezak, T.93
more..
-
3
-
-
42549161987
-
Knowing me, knowing you
-
Lenzer, J. & Brownlee, S. Knowing me, knowing you. BMJ 336, 858-860 (2008). (Pubitemid 351580005)
-
(2008)
BMJ
, vol.336
, Issue.7649
, pp. 858-860
-
-
Lenzer, J.1
Brownlee, S.2
-
4
-
-
84861347878
-
-
Wiley Online Library doi:10.1002/9780470015902.a0021995
-
Chee-Seng, K., En Yun, L., Yudi, P. & Kee-Seng, C. Genome-wide association studies: the success, failure and future. Wiley Online Library (2001). doi:10.1002/9780470015902.a0021995
-
(2001)
Genome-wide Association Studies: The Success, Failure and Future
-
-
Chee-Seng, K.1
En Yun, L.2
Yudi, P.3
Kee-Seng, C.4
-
5
-
-
77952720637
-
Genome-wide association studies and beyond
-
9-20,4,following
-
Witte, J.S. Genome-wide association studies and beyond. Annu. Rev. Public Health 31, 9-20 4 p following 20 (2010).
-
(2010)
Annu. Rev. Public Health
, vol.31
, pp. 20
-
-
Witte, J.S.1
-
6
-
-
51649110496
-
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose
-
Cooper, G.M. et al. A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. Blood 112, 1022-1027 (2008).
-
(2008)
Blood
, vol.112
, pp. 1022-1027
-
-
Cooper, G.M.1
-
7
-
-
70349533037
-
Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C
-
Tanaka, Y. et al. Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C. Nat. Genet. 41, 1105-1109 (2009).
-
(2009)
Nat. Genet.
, vol.41
, pp. 1105-1109
-
-
Tanaka, Y.1
-
8
-
-
70349548852
-
IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy
-
Suppiah, V. et al. IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy. Nat. Genet. 41, 1100-1104 (2009).
-
(2009)
Nat. Genet.
, vol.41
, pp. 1100-1104
-
-
Suppiah, V.1
-
9
-
-
69249219296
-
Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy
-
Shuldiner, A.R. et al. Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. JAMA 302, 849-857 (2009).
-
(2009)
JAMA
, vol.302
, pp. 849-857
-
-
Shuldiner, A.R.1
-
10
-
-
49949104757
-
SLCO1B1 variants and statininduced myopathy-a genomewide study
-
SEARCH Collaborative Group.
-
Link, E. et al.; SEARCH Collaborative Group. SLCO1B1 variants and statininduced myopathy-a genomewide study. N. Engl. J. Med. 359, 789-799 (2008).
-
(2008)
N. Engl. J. Med.
, vol.359
, pp. 789-799
-
-
Link, E.1
-
11
-
-
67649859295
-
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin
-
DILIGEN Study; International SAE Consortium
-
Daly, A.K. et al.; DILIGEN Study; International SAE Consortium. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat. Genet. 41, 816-819 (2009).
-
(2009)
Nat. Genet.
, vol.41
, pp. 816-819
-
-
Daly, A.K.1
-
12
-
-
79952322815
-
Genetic factors underlying the risk of thalidomide-related neuropathy in patients with multiple myeloma
-
Johnson, D.C. et al. Genetic factors underlying the risk of thalidomide-related neuropathy in patients with multiple myeloma. J. Clin. Oncol. 29, 797-804 (2011).
-
(2011)
J. Clin. Oncol.
, vol.29
, pp. 797-804
-
-
Johnson, D.C.1
-
13
-
-
70349963539
-
Pharmacogenomics of anticoagulants: Steps toward personal dosage
-
Daly, A.K. Pharmacogenomics of anticoagulants: steps toward personal dosage. Genome Med. 1, 10 (2009).
-
(2009)
Genome Med.
, vol.1
, pp. 10
-
-
Daly, A.K.1
-
14
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio, T.A. et al. Finding the missing heritability of complex diseases. Nature 461, 747-753 (2009).
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
-
15
-
-
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
-
16
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
-
Ng, S.B. et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42, 790-793 (2010).
-
(2010)
Nat. Genet.
, vol.42
, pp. 790-793
-
-
Ng, S.B.1
-
17
-
-
77952888699
-
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
-
Hoischen, A. et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat. Genet. 42, 483-485 (2010).
-
(2010)
Nat. Genet.
, vol.42
, pp. 483-485
-
-
Hoischen, A.1
-
18
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
ITALSGEN Consortium
-
Johnson, J.O. et al.; ITALSGEN Consortium. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68, 857-864 (2010).
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
-
19
-
-
78049336905
-
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
-
Bilgüvar, K. et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 467, 207-210 (2010).
-
(2010)
Nature
, vol.467
, pp. 207-210
-
-
Bilgüvar, K.1
-
20
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by wholegenome sequencing
-
Roach, J.C. et al. Analysis of genetic inheritance in a family quartet by wholegenome sequencing. Science 328, 636-639 (2010).
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
-
21
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski, J.R. et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 362, 1181-1191 (2010).
-
(2010)
N. Engl. J. Med.
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
-
22
-
-
79959316645
-
Whole-genome sequencing for optimized patient management
-
Bainbridge, M.N. et al. Whole-genome sequencing for optimized patient management. Sci. Transl. Med. 3, 87re3 (2011).
-
(2011)
Sci. Transl. Med.
, vol.3
-
-
Bainbridge, M.N.1
-
23
-
-
77951589703
-
Clinical assessment incorporating a personal genome
-
Ashley, E.A. et al. Clinical assessment incorporating a personal genome. Lancet 375, 1525-1535 (2010).
-
(2010)
Lancet
, vol.375
, pp. 1525-1535
-
-
Ashley, E.A.1
-
24
-
-
80053447840
-
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence
-
Dewey, F.E. et al. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet. 7, e1002280 (2011).
-
(2011)
PLoS Genet.
, vol.7
-
-
Dewey, F.E.1
-
25
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
DOI 10.1038/ng1416
-
Iafrate, A.J. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949-951 (2004). (Pubitemid 39167488)
-
(2004)
Nature Genetics
, vol.36
, Issue.9
, 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
-
26
-
-
79959503826
-
The international hapmap project
-
Tanaka, T. The International HapMap Project. Nature 426, 789-796 (2003).
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
Tanaka, T.1
-
27
-
-
0037066430
-
A human genome diversity cell line panel [1]
-
Cann, H.M. et al. A human genome diversity cell line panel. Science 296, 261-262 (2002). (Pubitemid 34303653)
-
(2002)
Science
, vol.296
, Issue.5566
, pp. 261-262
-
-
Cann, H.M.1
De Toma, C.2
Cazes, L.3
Legrand, M.-F.4
Morel, V.5
Piouffre, L.6
Bodmer, J.7
Bodmer, W.F.8
Bonne-Tamir, B.9
Cambon-Thomsen, A.10
Chen, Z.11
Chu, J.12
Carcassi, C.13
Contu, L.14
Du, R.15
Excoffier, L.16
Ferrara, G.B.17
Friedlaender, J.S.18
Groot, H.19
Gurwitz, D.20
Jenkins, T.21
Herrera, R.J.22
Huang, X.23
Kidd, J.24
Kidd, K.K.25
Langaney, A.26
Lin, A.A.27
Mehdi, S.Q.28
Parham, P.29
Piazza, A.30
Pistillo, M.P.31
Qian, Y.32
Shu, Q.33
Xu, J.34
Zhu, S.35
Weber, J.L.36
Greely, H.T.37
Feldman, M.W.38
Thomas, G.39
Dausset, J.40
Cavalli-Sforza, L.L.41
more..
-
28
-
-
62549085618
-
Human genetic variation and its contribution to complex traits
-
Frazer, K.A., Murray, S.S., Schork, N.J. & Topol, E.J. Human genetic variation and its contribution to complex traits. Nat. Rev. Genet. 10, 241-251 (2009).
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 241-251
-
-
Frazer, K.A.1
Murray, S.S.2
Schork, N.J.3
Topol, E.J.4
-
29
-
-
84969213492
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
-
Wellcome Trust Case Control Consortium
-
Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661-678 (2007).
-
(2007)
Nature
, vol.447
, pp. 661-678
-
-
-
30
-
-
33847176604
-
A genome-wide association study identifies novel risk loci for type 2 diabetes
-
Sladek, R. et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445, 881-885 (2007).
-
(2007)
Nature
, vol.445
, pp. 881-885
-
-
Sladek, R.1
-
31
-
-
33845340501
-
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
-
DOI 10.1126/science.1135245
-
Duerr, R.H. et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314, 1461-1463 (2006). (Pubitemid 44871953)
-
(2006)
Science
, vol.314
, Issue.5804
, pp. 1461-1463
-
-
Duerr, R.H.1
Taylor, K.D.2
Brant, S.R.3
Rioux, J.D.4
Silverberg, M.S.5
Daly, M.J.6
Steinhart, A.H.7
Abraham, C.8
Regueiro, M.9
Griffiths, A.10
Dassopoulos, T.11
Bitton, A.12
Yang, H.13
Targan, S.14
Datta, L.W.15
Kistner, E.O.16
Schumm, L.P.17
Lee, A.T.18
Gregersen, P.K.19
Barmada, M.M.20
Rotter, J.I.21
Nicolae, D.L.22
Cho, J.H.23
more..
-
32
-
-
34250006413
-
Genome-wide association study identifies novel breast cancer susceptibility loci
-
DOI 10.1038/nature05887, PII NATURE05887
-
Easton, D.F. et al.; SEARCH collaborators; kConFab; AOCS Management Group. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447, 1087-1093 (2007). (Pubitemid 47014426)
-
(2007)
Nature
, vol.447
, Issue.7148
, pp. 1087-1093
-
-
Easton, D.F.1
Pooley, K.A.2
Dunning, A.M.3
Pharoah, P.D.P.4
Thompson, D.5
Ballinger, D.G.6
Struewing, J.P.7
Morrison, J.8
Field, H.9
Luben, R.10
Wareham, N.11
Ahmed, S.12
Healey, C.S.13
Bowman, R.14
Meyer, K.B.15
Haiman, C.A.16
Kolonel, L.K.17
Henderson, B.E.18
Le Marchand, L.19
Brennan, P.20
Sangrajrang, S.21
Gaborieau, V.22
Odefrey, F.23
Shen, C.-Y.24
Wu, P.-E.25
Wang, H.-C.26
Eccles, D.27
Evans, D.G.28
Peto, J.29
Fletcher, O.30
Johnson, N.31
Seal, S.32
Stratton, M.R.33
Rahman, N.34
Chenevix-Trench, G.35
Bojesen, S.E.36
Nordestgaard, B.G.37
Axelsson, C.K.38
Garcia-Closas, M.39
Brinton, L.40
Chanock, S.41
Lissowska, J.42
Peplonska, B.43
Nevanlinna, H.44
Fagerholm, R.45
Eerola, H.46
Kang, D.47
Yoo, K.-Y.48
Noh, D.-Y.49
Ahn, S.-H.50
Hunter, D.J.51
Hankinson, S.E.52
Cox, D.G.53
Hall, P.54
Wedren, S.55
Liu, J.56
Low, Y.-L.57
Bogdanova, N.58
Schurmann, P.59
Dork, T.60
Tollenaar, R.A.E.M.61
Jacobi, C.E.62
Devilee, P.63
Klijn, J.G.M.64
Sigurdson, A.J.65
Doody, M.M.66
Alexander, B.H.67
Zhang, J.68
Cox, A.69
Brock, I.W.70
MacPherson, G.71
Reed, M.W.R.72
Couch, F.J.73
Goode, E.L.74
Olson, J.E.75
Meijers-Heijboer, H.76
Van Den Ouweland, A.77
Uitterlinden, A.78
Rivadeneira, F.79
Milne, R.L.80
Ribas, G.81
Gonzalez-Neira, A.82
Benitez, J.83
Hopper, J.L.84
McCredie, M.85
Southey, M.86
Giles, G.G.87
Schroen, C.88
Justenhoven, C.89
Brauch, H.90
Hamann, U.91
Ko, Y.-D.92
Spurdle, A.B.93
Beesley, J.94
more..
-
33
-
-
79959809380
-
Association of the 5-aminoimidazole-4-carboxamide ribonucleotide transformylase gene with response to methotrexate in juvenile idiopathic arthritis
-
Hinks, A. et al. Association of the 5-aminoimidazole-4-carboxamide ribonucleotide transformylase gene with response to methotrexate in juvenile idiopathic arthritis. Ann. Rheum. Dis. 70, 1395-1400 (2011).
-
(2011)
Ann. Rheum. Dis.
, vol.70
, pp. 1395-1400
-
-
Hinks, A.1
-
34
-
-
34748848639
-
The NCBI dbGaP database of genotypes and phenotypes
-
DOI 10.1038/ng1007-1181, PII NG10071181
-
Mailman, M.D. et al. The NCBI dbGaP database of genotypes and phenotypes. Nat. Genet. 39, 1181-1186 (2007). (Pubitemid 47482671)
-
(2007)
Nature Genetics
, vol.39
, Issue.10
, pp. 1181-1186
-
-
Mailman, M.D.1
Feolo, M.2
Jin, Y.3
Kimura, M.4
Tryka, K.5
Bagoutdinov, R.6
Hao, L.7
Kiang, A.8
Paschall, J.9
Phan, L.10
Popova, N.11
Pretel, S.12
Ziyabari, L.13
Lee, M.14
Shao, Y.15
Wang, Z.Y.16
Sirotkin, K.17
Ward, M.18
Kholodov, M.19
Zbicz, K.20
Beck, J.21
Kimelman, M.22
Shevelev, S.23
Preuss, D.24
Yaschenko, E.25
Graeff, A.26
Ostell, J.27
Sherry, S.T.28
more..
-
35
-
-
0030294384
-
Human gene mutation database
-
Cooper, D.N. & Krawczak, M. Human Gene Mutation Database. Hum. Genet. 98, 629 (1996). (Pubitemid 126745950)
-
(1996)
Human Genetics
, vol.98
, Issue.5
, pp. 629
-
-
Cooper, D.N.1
Krawczak, M.2
-
36
-
-
0033985936
-
Online mendelian inheritance in man
-
Hamosh, A., Scott, A.F., Amberger, J., Valle, D. & McKusick, V.A. Online Mendelian Inheritance in Man. Hum. Mutat. 15, 811-812 (2000).
-
(2000)
Hum. Mutat.
, vol.15
, pp. 811-812
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.3
Valle, D.4
McKusick, V.A.5
-
37
-
-
79952200485
-
Small insertions and deletions (INDELs) in human genomes
-
Mullaney, J.M., Mills, R.E., Pittard, W.S. & Devine, S.E. Small insertions and deletions (INDELs) in human genomes. Hum. Mol. Genet. 19, R131-R136 (2010).
-
(2010)
Hum. Mol. Genet.
, vol.19
-
-
Mullaney, J.M.1
Mills, R.E.2
Pittard, W.S.3
Devine, S.E.4
-
38
-
-
79960563426
-
Ranking insertion, deletion and nonsense mutations based on their effect on genetic information
-
Zia, A. & Moses, A.M. Ranking insertion, deletion and nonsense mutations based on their effect on genetic information. BMC Bioinformatics 12, 299 (2011).
-
(2011)
BMC Bioinformatics
, vol.12
, pp. 299
-
-
Zia, A.1
Moses, A.M.2
-
39
-
-
46949096094
-
Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake
-
DOI 10.1084/jem.20072413
-
Willcocks, L.C. et al. Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J. Exp. Med. 205, 1573-1582 (2008). (Pubitemid 351962021)
-
(2008)
Journal of Experimental Medicine
, vol.205
, Issue.7
, pp. 1573-1582
-
-
Willcocks, L.C.1
Lyons, P.A.2
Clatworthy, M.R.3
Robinson, J.I.4
Yang, W.5
Newland, S.A.6
Plagnol, V.7
McGovern, N.N.8
Condliffe, A.M.9
Chilvers, E.R.10
Adu, D.11
Jolly, E.C.12
Watts, R.13
Lau, Y.L.14
Morgan, A.W.15
Nash, G.16
Smith, K.G.C.17
-
40
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall, C.R. et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82, 477-488 (2008).
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
-
41
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455, 237-241 (2008).
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
-
42
-
-
20444498630
-
Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer
-
DOI 10.1093/jnci/dji112
-
Cappuzzo, F. et al. Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer. J. Natl. Cancer Inst. 97, 643-655 (2005). (Pubitemid 40812628)
-
(2005)
Journal of the National Cancer Institute
, vol.97
, Issue.9
, pp. 643-655
-
-
Cappuzzo, F.1
Hirsch, F.R.2
Rossi, E.3
Bartolini, S.4
Ceresoli, G.L.5
Bemis, L.6
Haney, J.7
Witta, S.8
Danenberg, K.9
Domenichini, I.10
Ludovini, V.11
Magrini, E.12
Gregorc, V.13
Doglioni, C.14
Sidoni, A.15
Tonato, M.16
Franklin, W.A.17
Crino, L.18
Bunn Jr., P.A.19
Varella-Garcia, M.20
more..
-
43
-
-
0029095603
-
Factor VIII gene inversions in severe hemophilia A: Results of an international consortium study
-
Antonarakis, S.E. et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 86, 2206-2212 (1995).
-
(1995)
Blood
, vol.86
, pp. 2206-2212
-
-
Antonarakis, S.E.1
-
44
-
-
0028926890
-
Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome
-
Bondeson, M.-L. et al. Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome. Hum. Mol. Genet. 4, 615-621 (1995).
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 615-621
-
-
Bondeson, M.-L.1
-
45
-
-
62549129523
-
Sulfotransferase gene copy number variation: Pharmacogenetics and function
-
Hebbring, S.J., Moyer, A.M. & Weinshilboum, R.M. Sulfotransferase gene copy number variation: pharmacogenetics and function. Cytogenet. Genome Res. 123, 205-210 (2008).
-
(2008)
Cytogenet. Genome Res.
, vol.123
, pp. 205-210
-
-
Hebbring, S.J.1
Moyer, A.M.2
Weinshilboum, R.M.3
-
46
-
-
3042641834
-
A frameshift mutation and alternate splicing in human brain generate a functional form of the pseudogene cytochrome P4502D7 that demethylates codeine to morphine
-
DOI 10.1074/jbc.M402337200
-
Pai, H.V., Kommaddi, R.P., Chinta, S.J., Mori, T., Boyd, M.R. & Ravindranath, V. A frameshift mutation and alternate splicing in human brain generate a functional form of the pseudogene cytochrome P4502D7 that demethylates codeine to morphine. J. Biol. Chem. 279, 27383-27389 (2004). (Pubitemid 38812577)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.26
, pp. 27383-27389
-
-
Pai, H.V.1
Kommaddi, R.P.2
Chinta, S.J.3
Mori, T.4
Boyd, M.R.5
Ravindranath, V.6
-
47
-
-
77249134594
-
Rare variants create synthetic genome-wide associations
-
Dickson, S.P., Wang, K., Krantz, I., Hakonarson, H. & Goldstein, D.B. Rare variants create synthetic genome-wide associations. PLoS Biol. 8, e1000294 (2010).
-
(2010)
PLoS Biol.
, vol.8
-
-
Dickson, S.P.1
Wang, K.2
Krantz, I.3
Hakonarson, H.4
Goldstein, D.B.5
-
48
-
-
79953212557
-
A rare variant in MYH6 is associated with high risk of sick sinus syndrome
-
Holm, H. et al. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat. Genet. 43, 316-320 (2011).
-
(2011)
Nat. Genet.
, vol.43
, pp. 316-320
-
-
Holm, H.1
-
49
-
-
84855316334
-
Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition
-
Ramsey, L.B. et al. Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition. Genome Res. 22, 1-8 (2012).
-
(2012)
Genome Res.
, vol.22
, pp. 1-8
-
-
Ramsey, L.B.1
-
50
-
-
84856514936
-
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver
-
van de Steeg, E. et al. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J. Clin. Invest. 122, 519-528 (2012).
-
(2012)
J. Clin. Invest.
, vol.122
, pp. 519-528
-
-
Van De Steeg, E.1
-
51
-
-
42349112088
-
Genome-wide association studies for complex traits: Consensus, uncertainty and challenges
-
DOI 10.1038/nrg2344, PII NRG2344
-
McCarthy, M.I. et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat. Rev. Genet. 9, 356-369 (2008). (Pubitemid 351556063)
-
(2008)
Nature Reviews Genetics
, vol.9
, Issue.5
, pp. 356-369
-
-
McCarthy, M.I.1
Abecasis, G.R.2
Cardon, L.R.3
Goldstein, D.B.4
Little, J.5
Ioannidis, J.P.A.6
Hirschhorn, J.N.7
-
52
-
-
31844449496
-
Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers
-
DOI 10.1007/s00239-005-0055-x
-
Carlini, D.B. & Genut, J.E. Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers. J. Mol. Evol. 62, 89-98 (2006). (Pubitemid 43185421)
-
(2006)
Journal of Molecular Evolution
, vol.62
, Issue.1
, pp. 89-98
-
-
Carlini, D.B.1
Genut, J.E.2
-
53
-
-
78149437703
-
Non-Synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association
-
Chen, R., Davydov, E.V., Sirota, M. & Butte, A.J. Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association. PLoS ONE 5, e13574 (2010).
-
(2010)
PLoS ONE
, vol.5
-
-
Chen, R.1
Davydov, E.V.2
Sirota, M.3
Butte, A.J.4
-
54
-
-
79551623370
-
ANRIL a long, noncoding RNA, is an unexpected major hotspot in GWAS
-
Pasmant, E., Sabbagh, A., Vidaud, M. & Bièche, I. ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS. FASEB J. 25, 444-448 (2011).
-
(2011)
FASEB J.
, vol.25
, pp. 444-448
-
-
Pasmant, E.1
Sabbagh, A.2
Vidaud, M.3
Bièche, I.4
-
56
-
-
82755166898
-
From pharmacogenomic knowledge acquisition to clinical applications: The PharmGKB as a clinical pharmacogenomic biomarker resource
-
McDonagh, E.M., Whirl-Carrillo, M., Garten, Y., Altman, R.B. & Klein, T.E. From pharmacogenomic knowledge acquisition to clinical applications: the PharmGKB as a clinical pharmacogenomic biomarker resource. Biomark. Med. 5, 795-806 (2011).
-
(2011)
Biomark. Med.
, vol.5
, pp. 795-806
-
-
McDonagh, E.M.1
Whirl-Carrillo, M.2
Garten, Y.3
Altman, R.B.4
Klein, T.E.5
-
57
-
-
77956561809
-
Likelihood ratios for genome medicine
-
Morgan, A.A., Chen, R. & Butte, A.J. Likelihood ratios for genome medicine. Genome Med. 2, 30 (2010).
-
(2010)
Genome Med.
, vol.2
, pp. 30
-
-
Morgan, A.A.1
Chen, R.2
Butte, A.J.3
-
58
-
-
77953886372
-
An Environment-Wide Association Study (EWAS) on type 2 diabetes mellitus
-
Patel, C.J., Bhattacharya, J. & Butte, A.J. An Environment-Wide Association Study (EWAS) on type 2 diabetes mellitus. PLoS ONE 5, e10746 (2010).
-
(2010)
PLoS ONE
, vol.5
-
-
Patel, C.J.1
Bhattacharya, J.2
Butte, A.J.3
-
59
-
-
82655184653
-
Personalized oncology through integrative highthroughput sequencing: A pilot study
-
Roychowdhury, S. et al. Personalized oncology through integrative highthroughput sequencing: a pilot study. Sci. Transl. Med. 3, 111ra121 (2011).
-
(2011)
Sci. Transl. Med.
, vol.3
-
-
Roychowdhury, S.1
-
60
-
-
79955038968
-
Use of whole-genome sequencing to diagnose a cryptic fusion oncogene
-
Welch, J.S. et al. Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. JAMA 305, 1577-1584 (2011).
-
(2011)
JAMA
, vol.305
, pp. 1577-1584
-
-
Welch, J.S.1
-
61
-
-
79851493086
-
Effect of direct-to-consumer genomewide profiling to assess disease risk
-
Bloss, C.S., Schork, N.J. & Topol, E.J. Effect of direct-to-consumer genomewide profiling to assess disease risk. N. Engl. J. Med. 364, 524-534 (2011).
-
(2011)
N. Engl. J. Med.
, vol.364
, pp. 524-534
-
-
Bloss, C.S.1
Schork, N.J.2
Topol, E.J.3
-
62
-
-
80054824133
-
Design of a randomized trial of diabetes genetic risk testing to motivate behavior change: The Genetic Counseling/lifestyle Change (GC/LC) Study for Diabetes Prevention
-
Grant, R.W. et al. Design of a randomized trial of diabetes genetic risk testing to motivate behavior change: the Genetic Counseling/lifestyle Change (GC/LC) Study for Diabetes Prevention. Clin. Trials 8, 609-615 (2011).
-
(2011)
Clin. Trials
, vol.8
, pp. 609-615
-
-
Grant, R.W.1
-
63
-
-
84858433310
-
Personal omics profiling reveals dynamic molecular and medical phenotypes
-
Chen, R. et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell 148, 1293-1307 (2012).
-
(2012)
Cell
, vol.148
, pp. 1293-1307
-
-
Chen, R.1
-
64
-
-
79952532412
-
Cancer epigenetics: Linking basic biology to clinical medicine
-
Tsai, H.C. & Baylin, S.B. Cancer epigenetics: linking basic biology to clinical medicine. Cell Res. 21, 502-517 (2011).
-
(2011)
Cell Res.
, vol.21
, pp. 502-517
-
-
Tsai, H.C.1
Baylin, S.B.2
-
65
-
-
77958093579
-
Stress and the epigenetic landscape: A link to the pathobiology of human diseases?
-
Johnstone, S.E. & Baylin, S.B. Stress and the epigenetic landscape: a link to the pathobiology of human diseases? Nat. Rev. Genet. 11, 806-812 (2010).
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 806-812
-
-
Johnstone, S.E.1
Baylin, S.B.2
-
67
-
-
48249123433
-
Pharmacogenomic biomarker information in drug labels approved by the United States food and drug administration: Prevalence of related drug use
-
Frueh, F.W. et al. Pharmacogenomic biomarker information in drug labels approved by the United States food and drug administration: prevalence of related drug use. Pharmacotherapy 28, 992-998 (2008).
-
(2008)
Pharmacotherapy
, vol.28
, pp. 992-998
-
-
Frueh, F.W.1
-
68
-
-
74049127353
-
DbSNP in the detail and copy number complexities
-
Day, I.N. dbSNP in the detail and copy number complexities. Hum. Mutat. 31, 2-4 (2010).
-
(2010)
Hum. Mutat.
, vol.31
, pp. 2-4
-
-
Day, I.N.1
-
69
-
-
77957550192
-
Public data archives for genomic structural variation
-
Church, D.M. et al. Public data archives for genomic structural variation. Nat. Genet. 42, 813-814 (2010).
-
(2010)
Nat. Genet.
, vol.42
, pp. 813-814
-
-
Church, D.M.1
-
70
-
-
33751527925
-
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome
-
DOI 10.1159/000095916
-
Zhang, J., Feuk, L., Duggan, G.E., Khaja, R. & Scherer, S.W. Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet. Genome Res. 115, 205-214 (2006). (Pubitemid 44832022)
-
(2006)
Cytogenetic and Genome Research
, vol.115
, Issue.3-4
, pp. 205-214
-
-
Zhang, J.1
Feuk, L.2
Duggan, G.E.3
Khaja, R.4
Scherer, S.W.5
-
71
-
-
34250305146
-
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
-
DOI 10.1038/nature05874, PII NATURE05874
-
Birney, E. et al.; ENCODE Project Consortium; NISC Comparative Sequencing Program; Baylor College of Medicine Human Genome Sequencing Center; Washington University Genome Sequencing Center; Broad Institute; Children's Hospital Oakland Research Institute. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447, 799-816 (2007). (Pubitemid 46920138)
-
(2007)
Nature
, vol.447
, Issue.7146
, pp. 799-816
-
-
Birney, E.1
Stamatoyannopoulos, J.A.2
Dutta, A.3
Guigo, R.4
Gingeras, T.R.5
Margulies, E.H.6
Weng, Z.7
Snyder, M.8
Dermitzakis, E.T.9
Thurman, R.E.10
Kuehn, M.S.11
Taylor, C.M.12
Neph, S.13
Koch, C.M.14
Asthana, S.15
Malhotra, A.16
Adzhubei, I.17
Greenbaum, J.A.18
Andrews, R.M.19
Flicek, P.20
Boyle, P.J.21
Cao, H.22
Carter, N.P.23
Clelland, G.K.24
Davis, S.25
Day, N.26
Dhami, P.27
Dillon, S.C.28
Dorschner, M.O.29
Fiegler, H.30
Giresi, P.G.31
Goldy, J.32
Hawrylycz, M.33
Haydock, A.34
Humbert, R.35
James, K.D.36
Johnson, B.E.37
Johnson, E.M.38
Frum, T.T.39
Rosenzweig, E.R.40
Karnani, N.41
Lee, K.42
Lefebvre, G.C.43
Navas, P.A.44
Neri, F.45
Parker, S.C.J.46
Sabo, P.J.47
Sandstrom, R.48
Shafer, A.49
Vetrie, D.50
Weaver, M.51
Wilcox, S.52
Yu, M.53
Collins, F.S.54
Dekker, J.55
Lieb, J.D.56
Tullius, T.D.57
Crawford, G.E.58
Sunyaev, S.59
Noble, W.S.60
Dunham, I.61
Denoeud, F.62
Reymond, A.63
Kapranov, P.64
Rozowsky, J.65
Zheng, D.66
Castelo, R.67
Frankish, A.68
Harrow, J.69
Ghosh, S.70
Sandelin, A.71
Hofacker, I.L.72
Baertsch, R.73
Keefe, D.74
Dike, S.75
Cheng, J.76
Hirsch, H.A.77
Sekinger, E.A.78
Lagarde, J.79
Abril, J.F.80
Shahab, A.81
Flamm, C.82
Fried, C.83
Hackermuller, J.84
Hertel, J.85
Lindemeyer, M.86
Missal, K.87
Tanzer, A.88
Washietl, S.89
Korbel, J.90
Emanuelsson, O.91
Pedersen, J.S.92
more..
-
72
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
DOI 10.1093/nar/gkg509
-
Ng, P.C. & Henikoff, S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31, 3812-3814 (2003). (Pubitemid 37442253)
-
(2003)
Nucleic Acids Research
, vol.31
, Issue.13
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
73
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I.A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010).
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
-
74
-
-
78651317925
-
The European nucleotide archive
-
Leinonen, R. et al. The European Nucleotide Archive. Nucleic Acids Res. 39, D28-D31 (2011).
-
(2011)
Nucleic Acids Res.
, vol.39
-
-
Leinonen, R.1
-
75
-
-
77953446523
-
The human gene mutation database: 2008 update
-
Stenson, P.D. et al. The Human Gene Mutation Database: 2008 update. Genome Med. 1, 13 (2009).
-
(2009)
Genome Med.
, vol.1
, pp. 13
-
-
Stenson, P.D.1
-
76
-
-
77951952886
-
Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar
-
Mottaz, A., David, F.P., Veuthey, A.L. & Yip, Y.L. Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar. Bioinformatics 26, 851-852 (2010).
-
(2010)
Bioinformatics
, vol.26
, pp. 851-852
-
-
Mottaz, A.1
David, F.P.2
Veuthey, A.L.3
Yip, Y.L.4
-
77
-
-
2442604715
-
The genetic association database
-
Becker, K.G., Barnes, K.C., Bright, T.J. & Wang, S.A. The genetic association database. Nat. Genet. 36, 431-432 (2004).
-
(2004)
Nat. Genet.
, vol.36
, pp. 431-432
-
-
Becker, K.G.1
Barnes, K.C.2
Bright, T.J.3
Wang, S.A.4
-
78
-
-
67249117049
-
Potential etiologic and functional implications of genomewide association loci for human diseases and traits
-
Hindorff, L.A. et al. Potential etiologic and functional implications of genomewide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 106, 9362-9367 (2009).
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
-
79
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
-
Drmanac, R. et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327, 78-81 (2010).
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
-
80
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Durbin, R.M. et al. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010).
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Durbin, R.M.1
-
81
-
-
78651287426
-
DrugBank 3.0: A comprehensive resource for 'omics' research on drugs
-
Knox, C. et al. DrugBank 3.0: a comprehensive resource for 'omics' research on drugs. Nucleic Acids Res. 39, D1035-D1041 (2011).
-
(2011)
Nucleic Acids Res.
, vol.39
-
-
Knox, C.1
|