-
1
-
-
78649483639
-
-
Accessed January 30
-
Personal Genome Project. http://www.personalgenomes.org. Accessed January 30, 2010.
-
(2010)
Personal Genome Project
-
-
-
2
-
-
1842337282
-
Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin
-
Ingram VM. Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. Nature. 1957;180:326-328.
-
(1957)
Nature
, vol.180
, pp. 326-328
-
-
Ingram, V.M.1
-
3
-
-
0001195354
-
Structure of a ribonucleic acid
-
Holley RW, Apgar J, Everett GA, et al. Structure of a ribonucleic acid. Science. 1965;147:1462-1465.
-
(1965)
Science
, vol.147
, pp. 1462-1465
-
-
Holley, R.W.1
Apgar, J.2
Everett, G.A.3
-
4
-
-
0017235043
-
Complete nucleotide sequence of bacteriophage MS2 RNA: primary and secondary structure of the replicase gene
-
Fiers W, Contreras R, Duerinck F, et al. Complete nucleotide sequence of bacteriophage MS2 RNA: primary and secondary structure of the replicase gene. Nature. 1976;260:500-507.
-
(1976)
Nature
, vol.260
, pp. 500-507
-
-
Fiers, W.1
Contreras, R.2
Duerinck, F.3
-
5
-
-
0017367852
-
Nucleotide sequence of bacteriophage phi X174 DNA
-
Sanger F, Air GM, Barrell BG, et al. Nucleotide sequence of bacteriophage phi X174 DNA. Nature. 1977;265:687-695.
-
(1977)
Nature
, vol.265
, pp. 687-695
-
-
Sanger, F.1
Air, G.M.2
Barrell, B.G.3
-
6
-
-
0016800090
-
A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase
-
Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol. 1975;94:441-8.
-
(1975)
J Mol Biol
, vol.94
, pp. 441-448
-
-
Sanger, F.1
Coulson, A.R.2
-
9
-
-
0030140427
-
Capitalizing on the genome
-
Anonymous. Editorial
-
Anonymous. Editorial. Capitalizing on the genome. Nat Genet. 1996;13:1.
-
(1996)
Nat Genet
, vol.13
, pp. 1
-
-
-
10
-
-
0029653518
-
Whole-genome random sequencing and assembly of Haemophilus influenzae Rd
-
Fleischmann RD, Adams MD, White Oet al. Whole-genome random sequencing and assembly of Haemophilus influenzae Rd. Science. 1995;269:496-512.
-
(1995)
Science
, vol.269
, pp. 496-512
-
-
Fleischmann, R.D.1
Adams, M.D.2
White Oet, al.3
-
11
-
-
0032509302
-
Genome sequence of the nematode, C., elegans: a platform for investigating, biology
-
C., elegans Sequencing, Consortium
-
C. elegans Sequencing Consortium. Genome sequence of the nematode C. elegans: a platform for investigating biology. Science. 1998;282:2012-2018.
-
(1998)
Science
, vol.282
, pp. 2012-2018
-
-
-
12
-
-
0034708480
-
The genome sequence of Drosophila melanogaster
-
Adams MD, Celniker SE, Holt RA, et al. The genome sequence of Drosophila melanogaster. Science. 2000;287:2185-2195.
-
(2000)
Science
, vol.287
, pp. 2185-2195
-
-
Adams, M.D.1
Celniker, S.E.2
Holt, R.A.3
-
13
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander ES, Linton LM, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409:860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
-
14
-
-
0035895505
-
The sequence of the human genome
-
Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science. 2001;291:1304-1351.
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
-
15
-
-
0037432755
-
The Human Genome Project: lessons from large-scale biology
-
Collins FS, Morgan M, Patrinos A. The Human Genome Project: lessons from large-scale biology. Science. 2003;300:286-290.
-
(2003)
Science
, vol.300
, pp. 286-290
-
-
Collins, F.S.1
Morgan, M.2
Patrinos, A.3
-
16
-
-
79959524146
-
A haplotype map of the human genome
-
International HapMap, Consortium
-
International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437:1299-320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
17
-
-
58049217860
-
-
Available at: Accessed 30 January, 2010
-
Hindorff LA, Junkins HA, Mehta JP, Manolio TA, et al. A Catalog of Published Genome-Wide Association Studies. Available at: http://www.genome.gov/gwastudies. Accessed 30 January, 2010.
-
A Catalog of Published Genome-Wide Association Studies
-
-
Hindorff, L.A.1
Junkins, H.A.2
Mehta, J.P.3
Manolio, T.A.4
-
18
-
-
1942499454
-
Advanced sequencing technologies: methods and goals
-
Shendure J, Mitra RD, Varma C, Church GM, et al. Advanced sequencing technologies: methods and goals. Nat Rev Genet. 2004;5:335-344.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 335-344
-
-
Shendure, J.1
Mitra, R.D.2
Varma, C.3
Church, G.M.4
-
21
-
-
55449120805
-
Genetic mapping in human disease
-
Altshuler D, Daly MJ, Lander ES, et al. Genetic mapping in human disease. Science. 2008;322:881-888.
-
(2008)
Science
, vol.322
, pp. 881-888
-
-
Altshuler, D.1
Daly, M.J.2
Lander, E.S.3
-
22
-
-
46649099510
-
1000 Genomes project
-
Siva N. 1000 Genomes project. Nat Biotechnol. 2008;26:256.
-
(2008)
Nat Biotechnol
, vol.26
, pp. 256
-
-
Siva, N.1
-
23
-
-
65249131713
-
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
-
Nejentsev S, Walker N, Riches D, Egholm M, Todd JA. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science. 2009;324:387-389.
-
(2009)
Science
, vol.324
, pp. 387-389
-
-
Nejentsev, S.1
Walker, N.2
Riches, D.3
Egholm, M.4
Todd, J.A.5
-
24
-
-
0000793139
-
Cramming more components onto integrated circuits
-
Moore GE. Cramming more components onto integrated circuits. Electronics. 1965;38:114-117.
-
(1965)
Electronics
, vol.38
, pp. 114-117
-
-
Moore, G.E.1
-
26
-
-
1942429746
-
-
National Human Genome Research Institute. Available at: Accessed 30 January, 2010
-
National Human Genome Research Institute. 2004. Near-Term Technology Development for Genome Sequencing (RFA-HG-04-002. Available at: http://grants.nih.gov/grants/guide/rfa-files/RFA-HG-04-002.html. Accessed 30 January, 2010.
-
(2004)
Near-Term Technology Development for Genome Sequencing (RFA-HG-04-002
-
-
-
27
-
-
78649489085
-
-
National Human Genome Research Institute. Available at: Accessed January 30, 2010
-
National Human Genome Research Institute. 2004. Revolutionary Genome Sequencing Technologies -- the $1000 Genome (RFA-HG-04-003. Available at: http://grants.nih.gov/grants/guide/rfa-files/RFA-HG-04-003.html. Accessed January 30, 2010.
-
(2004)
Revolutionary Genome Sequencing Technologies -- the $1000 Genome (RFA-HG-04-003
-
-
-
29
-
-
72849144434
-
Sequencing technologies - the next generation
-
Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. 2010;11:31-46.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
30
-
-
53649106195
-
Next-generation DNA sequencing
-
Shendure J, Ji H. Next-generation DNA sequencing. Nat Biotechnol. 2008;26:1135-1145.
-
(2008)
Nat Biotechnol
, vol.26
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
31
-
-
78649466747
-
-
Available at: Accessed February 5
-
Ultra-Low Cost Sequencing Technology. Available at: http://arep.med.harvard.edu/Polonator/. Accessed February 5, 2010.
-
(2010)
Ultra-Low Cost Sequencing Technology
-
-
-
32
-
-
24644462173
-
Accurate multiplex polony sequencing of an evolved bacterial genome
-
Shendure J, Porreca GJ, Reppas NB, et al. Accurate multiplex polony sequencing of an evolved bacterial genome. Science. 2005;309:1728-1732.
-
(2005)
Science
, vol.309
, pp. 1728-1732
-
-
Shendure, J.1
Porreca, G.J.2
Reppas, N.B.3
-
33
-
-
24044455869
-
Genome sequencing in microfabricated high-density picolitre reactors
-
Margulies M, Egholm M. Genome sequencing in microfabricated high-density picolitre reactors. Nature. 2005;437:376-380.
-
(2005)
Nature
, vol.437
, pp. 376-380
-
-
Margulies, M.1
Egholm, M.2
-
34
-
-
78649486679
-
-
Applied Biosystems Inc. Available at, Accessed January 22, 2010
-
Applied Biosystems Inc. 2010. ABI product literature. Available at https://docs.appliedbiosystems.com/pebiodocs/00113233.pdf. Accessed January 22, 2010.
-
(2010)
ABI product literature
-
-
-
35
-
-
78649453799
-
-
Applied Biosystems Inc. Available at: Accessed January 30, 2010
-
Applied Biosystems Inc 2010. The ABI SoLID 3 System: Enabling the Next Generation of Science. Available at: http://www3.appliedbiosystems.com/cms/groups/mcb_marketing/documents/gen eraldocuments/cms_061241.pdf. Accessed January 30, 2010.
-
(2010)
The ABI SoLID 3 System: Enabling the Next Generation of Science
-
-
-
36
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley DR, Balasubramanian S, Swerdlow HP, et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature. 2008;456:53-59.
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
Balasubramanian, S.2
Swerdlow, H.P.3
-
37
-
-
74449093973
-
A comprehensive catalogue of somatic mutations from a human cancer genome
-
Pleasance ED, Cheetham RK, Stephens PJ, et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature. 2010;463:191-196.
-
(2010)
Nature
, vol.463
, pp. 191-196
-
-
Pleasance, E.D.1
Cheetham, R.K.2
Stephens, P.J.3
-
38
-
-
74449085934
-
A small-cell lung cancer genome with complex signatures of tobacco exposure
-
Pleasance ED, Stephens PJ, O'Meara S, et al. A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature. 2010;463:184-190.
-
(2010)
Nature
, vol.463
, pp. 184-190
-
-
Pleasance, E.D.1
Stephens, P.J.2
O'Meara, S.3
-
39
-
-
41749104588
-
Single-molecule DNA sequencing of a viral genome
-
Harris TD, Buzby PR, Babcock H. Single-molecule DNA sequencing of a viral genome. Science. 2008;320:106-109.
-
(2008)
Science
, vol.320
, pp. 106-109
-
-
Harris, T.D.1
Buzby, P.R.2
Babcock, H.3
-
40
-
-
58149234737
-
Real-time DNA sequencing from single polymerase molecules
-
Eid J, Fehr A, Gray J, et al. Real-time DNA sequencing from single polymerase molecules. Science. 2009;323:133-138.
-
(2009)
Science
, vol.323
, pp. 133-138
-
-
Eid, J.1
Fehr, A.2
Gray, J.3
-
41
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
-
Drmanac R, Sparks AB, Callow MJ, et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science. 2010;327:78-81.
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
Sparks, A.B.2
Callow, M.J.3
-
42
-
-
33746921634
-
The Personal Genome Project
-
Church GM. The Personal Genome Project. Mol Systems Biol. 2005;1:2005.0030.
-
(2005)
Mol Systems Biol
, vol.1
-
-
Church, G.M.1
-
43
-
-
0038670579
-
The human phenome project
-
Freimer N, Sabatti C. The human phenome project. Nat Genet. 2003;34:15-21.
-
(2003)
Nat Genet
, vol.34
, pp. 15-21
-
-
Freimer, N.1
Sabatti, C.2
-
44
-
-
0031557885
-
What exactly are genomes, genotypes and phenotypes? And what about phenomes?
-
Mahner M, Kary M. What exactly are genomes, genotypes and phenotypes? And what about phenomes? J Theor Biol. 1997;186:55-63.
-
(1997)
J Theor Biol
, vol.186
, pp. 55-63
-
-
Mahner, M.1
Kary, M.2
-
46
-
-
23044526646
-
'Ome Sweet 'Omics-a genealogical treasury of words
-
Lederberg J, McCray AT. 'Ome Sweet 'Omics-a genealogical treasury of words. Scientist. 2001;15:8.
-
(2001)
Scientist
, vol.15
, pp. 8
-
-
Lederberg, J.1
McCray, A.T.2
-
47
-
-
78649486473
-
-
Available at: Accessed January 31
-
Transcriptome. Available at: http://en.wikipedia.org/wiki/Transcriptome. Accessed January 31, 2010.
-
(2010)
Transcriptome
-
-
-
48
-
-
78649485377
-
-
Available at: Accessed January 31
-
Proteome. Available at: http://en.wikipedia.org/wiki/Proteome. Accessed January 31, 2010.
-
(2010)
Proteome
-
-
-
49
-
-
50849127837
-
Genetic variation in an individual human exome
-
Ng PC, Levy S, Huang J, et al. Genetic variation in an individual human exome. PLoS Genet. 2008;4:e1000160.
-
(2008)
PLoS Genet
, vol.4
-
-
Ng, P.C.1
Levy, S.2
Huang, J.3
-
50
-
-
62649084535
-
Power of deep, all-exon resequencing for discovery of human trait genes
-
Kryukov GV, Shpunt A, Stamatoyannopoulos JA, Sunyaev SR. Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci U S A. 2009;106:3871-3876.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 3871-3876
-
-
Kryukov, G.V.1
Shpunt, A.2
Stamatoyannopoulos, J.A.3
Sunyaev, S.R.4
-
51
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009;461:272-276.
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
-
52
-
-
72449126831
-
Eyes wide open: the personal genome project, citizen science and veracity in informed consent
-
Angrist M. Eyes wide open: the personal genome project, citizen science and veracity in informed consent. Pers Med. 2009;6:691-699.
-
(2009)
Pers Med
, vol.6
, pp. 691-699
-
-
Angrist, M.1
-
55
-
-
73349141161
-
Validity of self-reported height, weight, and body mass index: findings from the National Health and Nutrition Examination Survey, 2001-2006
-
Merrill RM, Richardson JS. Validity of self-reported height, weight, and body mass index: findings from the National Health and Nutrition Examination Survey, 2001-2006. Prev Chronic Dis. 2009;6:A121.
-
(2009)
Prev Chronic Dis
, vol.6
-
-
Merrill, R.M.1
Richardson, J.S.2
-
56
-
-
33747272046
-
Getting the data right: information accuracy in pediatric emergency medicine
-
Porter SC, Manzi SF, Volpe D, Stack AM. Getting the data right: information accuracy in pediatric emergency medicine. Qual Saf Health Care. 2006;15:296-301.
-
(2006)
Qual Saf Health Care
, vol.15
, pp. 296-301
-
-
Porter, S.C.1
Manzi, S.F.2
Volpe, D.3
Stack, A.M.4
-
57
-
-
70349560566
-
Phenomics: the systematic study of phenotypes on a genome-wide scale
-
Bilder RM, Sabb FW, Cannon TD, et al. Phenomics: the systematic study of phenotypes on a genome-wide scale. Neuroscience. 2009;164:30-42.
-
(2009)
Neuroscience
, vol.164
, pp. 30-42
-
-
Bilder, R.M.1
Sabb, F.W.2
Cannon, T.D.3
-
58
-
-
78649457645
-
-
Available at: Accessed January 31
-
GoogleHealth. Available at: https://www.google.com/health/. Accessed January 31, 2010.
-
(2010)
GoogleHealth
-
-
-
59
-
-
78649461154
-
-
Available at: Accessed January 31
-
MS Healthvault. Available at: http://www.healthvault.com/. Accessed January 31, 2010.
-
(2010)
-
-
Healthvault, M.S.1
-
62
-
-
30544439504
-
Creation and implications of a phenome-genome network
-
Butte AJ, Kohane IS. Creation and implications of a phenome-genome network. Nat Biotechnol. 2006;24:55-62.
-
(2006)
Nat Biotechnol
, vol.24
, pp. 55-62
-
-
Butte, A.J.1
Kohane, I.S.2
-
63
-
-
58749112734
-
A core gut microbiome in obese and lean twins
-
Turnbaugh PJ, Gordon JI. A core gut microbiome in obese and lean twins. Nature. 2009;457:480-484.
-
(2009)
Nature
, vol.457
, pp. 480-484
-
-
Turnbaugh, P.J.1
Gordon, J.I.2
-
64
-
-
70449713952
-
The NIH Human Microbiome Project
-
December
-
Peterson J. The NIH Human Microbiome Project. Genome Res. December 2009;19:2317-2323.
-
(2009)
Genome Res.
, vol.19
, pp. 2317-2323
-
-
Peterson, J.1
-
65
-
-
69549086653
-
Functional characterization of the antibiotic resistance reservoir in the human microflora
-
Sommer MO, Dantas G, Church GM. Functional characterization of the antibiotic resistance reservoir in the human microflora. Science. 2009;325:1128-1131.
-
(2009)
Science
, vol.325
, pp. 1128-1131
-
-
Sommer, M.O.1
Dantas, G.2
Church, G.M.3
-
67
-
-
78649472424
-
-
Available at: Accessed 5 February
-
Number of functional IG and TR genes per haploid genome. Available at: http://www.imgt.org/textes/IMGTrepertoire/LocusGenes/tabgenes/human/gene Number.html#functional. Accessed 5 February, 2010.
-
(2010)
Number of functional IG and TR genes per haploid genome
-
-
-
68
-
-
65649122270
-
Highthroughput sequencing of the zebrafish antibody repertoire
-
Weinstein JA, Jiang N, White RA 3rd, Fisher DS, Quake SR. Highthroughput sequencing of the zebrafish antibody repertoire. Science. 2009;324:807-810.
-
(2009)
Science
, vol.324
, pp. 807-810
-
-
Weinstein, J.A.1
Jiang, N.2
White R.A., III.3
Fisher, D.S.4
Quake, S.R.5
-
69
-
-
50549089957
-
Disease-specific induced pluripotent stem cells
-
Park IH, Arora N, Huo H, et al. Disease-specific induced pluripotent stem cells. Cell. 2008;134:877-886.
-
(2008)
Cell
, vol.134
, pp. 877-886
-
-
Park, I.H.1
Arora, N.2
Huo, H.3
-
70
-
-
73649113113
-
A robust approach to identifying tissuespecific gene expression regulatory variants using personalized human induced pluripotent stem cells
-
Lee JH, Park IH, Gao Y, et al. A robust approach to identifying tissuespecific gene expression regulatory variants using personalized human induced pluripotent stem cells. PLoS Genet. 2009;5:e1000718.
-
(2009)
PLoS Genet
, vol.5
-
-
Lee, J.H.1
Park, I.H.2
Gao, Y.3
-
71
-
-
2642585738
-
The case for a US prospective cohort study of genes and environment
-
Collins F S. The case for a US prospective cohort study of genes and environment. Nature. 2004;429:475-477.
-
(2004)
Nature
, vol.429
, pp. 475-477
-
-
Collins, F.S.1
-
73
-
-
42349088372
-
From genetic privacy to open consent
-
Lunshof JE, Chadwick R, Vorhaus DB, Church GM. From genetic privacy to open consent. Nat Rev Genet,. 2008; 9:406-411.
-
(2008)
Nat Rev Genet
, vol.9
, pp. 406-411
-
-
Lunshof, J.E.1
Chadwick, R.2
Vorhaus, D.B.3
Church, G.M.4
-
74
-
-
78649493440
-
-
Available at: Accessed January 31
-
Overview of PGP consent forms. Available at: http://www.personalgenomes.org/consent/. Accessed January 31, 2010.
-
(2010)
Overview of PGP consent forms
-
-
-
75
-
-
31644440090
-
Returning genetic research results to individuals: points-to-consider
-
Renegar G, Webster CJ, Stuerzebecher S, et al. Returning genetic research results to individuals: points-to-consider. Bioethics. 2006;20:24-36.
-
(2006)
Bioethics
, vol.20
, pp. 24-36
-
-
Renegar, G.1
Webster, C.J.2
Stuerzebecher, S.3
-
76
-
-
57349167685
-
Public expectationsfor return of results from large-cohort genetic research
-
Murphy J, Scott J, Kaufman D, Geller G, LeRoy L, Hudson K. Public expectationsfor return of results from large-cohort genetic research. Am J Bioeth. 2008;8:36-43.
-
(2008)
Am J Bioeth
, vol.8
, pp. 36-43
-
-
Murphy, J.1
Scott, J.2
Kaufman, D.3
Geller, G.4
LeRoy, L.5
Hudson, K.6
-
78
-
-
33745905942
-
The incidentalome: a threat to genomic medicine
-
12
-
Kohane IS, Masys DR, Altman RB. The incidentalome: a threat to genomic medicine. JAMA. 2006 12;296:212-215.
-
(2006)
JAMA
, vol.296
, pp. 212-215
-
-
Kohane, I.S.1
Masys, D.R.2
Altman, R.B.3
-
79
-
-
57449092873
-
An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons
-
McGuire AL, Burke W. An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons. JAMA. 2008;300:2669-2671.
-
(2008)
JAMA
, vol.300
, pp. 2669-2671
-
-
McGuire, A.L.1
Burke, W.2
-
80
-
-
34248647304
-
Reestablishing the researcher-patient compact
-
Kohane IS, Mandl KD, Taylor PL, Holm IA, Nigrin DJ, Kunkel LM. Reestablishing the researcher-patient compact. Science. 2007;316:836-837.
-
(2007)
Science
, vol.316
, pp. 836-837
-
-
Kohane, I.S.1
Mandl, K.D.2
Taylor, P.L.3
Holm, I.A.4
Nigrin, D.J.5
Kunkel, L.M.6
-
81
-
-
78649465209
-
-
Available at: Accessed February 4
-
Trait-o-matic. Available at: http://snp.med.harvard.edu. Accessed February 4, 2010.
-
(2010)
Trait-o-matic
-
-
|