-
2
-
-
43049146524
-
A HapMap harvest of insights into the genetics of common disease
-
Manolio TA, Brooks LD, Collins FS, (2008) A HapMap harvest of insights into the genetics of common disease. J Clin Invest 118: 1590-1605.
-
(2008)
J Clin Invest
, vol.118
, pp. 1590-1605
-
-
Manolio, T.A.1
Brooks, L.D.2
Collins, F.S.3
-
3
-
-
79957604678
-
Principles for the post-GWAS functional characterization of cancer risk loci
-
Freedman ML, Monteiro AN, Gayther SA, Coetzee GA, Risch A, et al. (2011) Principles for the post-GWAS functional characterization of cancer risk loci. Nat Genet 43: 513-518.
-
(2011)
Nat Genet
, vol.43
, pp. 513-518
-
-
Freedman, M.L.1
Monteiro, A.N.2
Gayther, S.A.3
Coetzee, G.A.4
Risch, A.5
-
4
-
-
79955646758
-
Identification of causal sequence variants of disease in the next generation sequencing era
-
Kingsley CB, (2011) Identification of causal sequence variants of disease in the next generation sequencing era. Methods Mol Biol 700: 37-46.
-
(2011)
Methods Mol Biol
, vol.700
, pp. 37-46
-
-
Kingsley, C.B.1
-
5
-
-
77952557918
-
Missing heritability and strategies for finding the underlying causes of complex disease
-
Eichler EE, Flint J, Gibson G, Kong A, Leal SM, et al. (2010) Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet 11: 446-450.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 446-450
-
-
Eichler, E.E.1
Flint, J.2
Gibson, G.3
Kong, A.4
Leal, S.M.5
-
6
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, et al. (2009) Finding the missing heritability of complex diseases. Nature 461: 747-753.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
-
7
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, et al. (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456: 53-59.
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
Balasubramanian, S.2
Swerdlow, H.P.3
Smith, G.P.4
Milton, J.5
-
8
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
-
Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, et al. (2010) Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327: 78-81.
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
Sparks, A.B.2
Callow, M.J.3
Halpern, A.L.4
Burns, N.L.5
-
9
-
-
69749090013
-
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
-
McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, et al. (2009) Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res 19: 1527-1541.
-
(2009)
Genome Res
, vol.19
, pp. 1527-1541
-
-
McKernan, K.J.1
Peckham, H.E.2
Costa, G.L.3
McLaughlin, S.F.4
Fu, Y.5
-
10
-
-
70249089090
-
Single-molecule sequencing of an individual human genome
-
Pushkarev D, Neff NF, Quake SR, (2009) Single-molecule sequencing of an individual human genome. Nat Biotechnol 27: 847-850.
-
(2009)
Nat Biotechnol
, vol.27
, pp. 847-850
-
-
Pushkarev, D.1
Neff, N.F.2
Quake, S.R.3
-
11
-
-
69749124820
-
The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group
-
Ahn SM, Kim TH, Lee S, Kim D, Ghang H, et al. (2009) The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res 19: 1622-1629.
-
(2009)
Genome Res
, vol.19
, pp. 1622-1629
-
-
Ahn, S.M.1
Kim, T.H.2
Lee, S.3
Kim, D.4
Ghang, H.5
-
12
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, et al. (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Durbin, R.M.1
Abecasis, G.R.2
Altshuler, D.L.3
Auton, A.4
Brooks, L.D.5
-
13
-
-
78049321495
-
Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing
-
Fujimoto A, Nakagawa H, Hosono N, Nakano K, Abe T, et al. (2010) Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing. Nat Genet 42: 931-936.
-
(2010)
Nat Genet
, vol.42
, pp. 931-936
-
-
Fujimoto, A.1
Nakagawa, H.2
Hosono, N.3
Nakano, K.4
Abe, T.5
-
14
-
-
79960914208
-
Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals
-
Ju YS, Kim JI, Kim S, Hong D, Park H, et al. (2011) Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals. Nat Genet 43: 745-752.
-
(2011)
Nat Genet
, vol.43
, pp. 745-752
-
-
Ju, Y.S.1
Kim, J.I.2
Kim, S.3
Hong, D.4
Park, H.5
-
15
-
-
69249232047
-
A highly annotated whole-genome sequence of a Korean individual
-
Kim JI, Ju YS, Park H, Kim S, Lee S, et al. (2009) A highly annotated whole-genome sequence of a Korean individual. Nature 460: 1011-1015.
-
(2009)
Nature
, vol.460
, pp. 1011-1015
-
-
Kim, J.I.1
Ju, Y.S.2
Park, H.3
Kim, S.4
Lee, S.5
-
16
-
-
77953006634
-
The mutation spectrum revealed by paired genome sequences from a lung cancer patient
-
Lee W, Jiang Z, Liu J, Haverty PM, Guan Y, et al. (2010) The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature 465: 473-477.
-
(2010)
Nature
, vol.465
, pp. 473-477
-
-
Lee, W.1
Jiang, Z.2
Liu, J.3
Haverty, P.M.4
Guan, Y.5
-
17
-
-
55549101623
-
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
-
Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, et al. (2008) DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 456: 66-72.
-
(2008)
Nature
, vol.456
, pp. 66-72
-
-
Ley, T.J.1
Mardis, E.R.2
Ding, L.3
Fulton, B.4
McLellan, M.D.5
-
18
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, et al. (2010) Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362: 1181-1191.
-
(2010)
N Engl J Med
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Rio Deiros, D.4
Chen, D.C.5
-
19
-
-
70149093912
-
Recurring mutations found by sequencing an acute myeloid leukemia genome
-
Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, et al. (2009) Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 361: 1058-1066.
-
(2009)
N Engl J Med
, vol.361
, pp. 1058-1066
-
-
Mardis, E.R.1
Ding, L.2
Dooling, D.J.3
Larson, D.E.4
McLellan, M.D.5
-
20
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, et al. (2011) Mapping copy number variation by population-scale genome sequencing. Nature 470: 59-65.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
-
21
-
-
78049416608
-
The characterization of twenty sequenced human genomes
-
Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, et al. (2010) The characterization of twenty sequenced human genomes. PLoS Genet 6.
-
(2010)
PLoS Genet
, vol.6
-
-
Pelak, K.1
Shianna, K.V.2
Ge, D.3
Maia, J.M.4
Zhu, M.5
-
22
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, et al. (2010) Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328: 636-639.
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
Huff, C.D.4
Hubley, R.5
-
23
-
-
77954158128
-
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
-
Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, et al. (2010) Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet 6: e1000991.
-
(2010)
PLoS Genet
, vol.6
-
-
Sobreira, N.L.1
Cirulli, E.T.2
Avramopoulos, D.3
Wohler, E.4
Oswald, G.L.5
-
24
-
-
77956467633
-
Sequencing and analysis of an Irish human genome
-
Tong P, Prendergast JG, Lohan AJ, Farrington SM, Cronin S, et al. (2010) Sequencing and analysis of an Irish human genome. Genome Biol 11: R91.
-
(2010)
Genome Biol
, vol.11
-
-
Tong, P.1
Prendergast, J.G.2
Lohan, A.J.3
Farrington, S.M.4
Cronin, S.5
-
25
-
-
55549097849
-
The diploid genome sequence of an Asian individual
-
Wang J, Wang W, Li R, Li Y, Tian G, et al. (2008) The diploid genome sequence of an Asian individual. Nature 456: 60-65.
-
(2008)
Nature
, vol.456
, pp. 60-65
-
-
Wang, J.1
Wang, W.2
Li, R.3
Li, Y.4
Tian, G.5
-
26
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, et al. (2008) The complete genome of an individual by massively parallel DNA sequencing. Nature 452: 872-876.
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
-
27
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, et al. (2012) Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337: 64-69.
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
Fu, W.4
Kenny, E.E.5
-
28
-
-
84863541347
-
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
-
Nelson MR, Wegmann D, Ehm MG, Kessner D, St Jean P, et al. (2012) An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 337: 100-104.
-
(2012)
Science
, vol.337
, pp. 100-104
-
-
Nelson, M.R.1
Wegmann, D.2
Ehm, M.G.3
Kessner, D.4
St Jean, P.5
-
29
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Genomes Project C, Abecasis GR, Auton A, Brooks LD, DePristo MA, et al (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491: 56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Genomes Project, C.1
Abecasis, G.R.2
Auton, A.3
Brooks, L.D.4
DePristo, M.A.5
-
30
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, et al. (2007) The diploid genome sequence of an individual human. PLoS Biol 5: e254.
-
(2007)
PLoS Biol
, vol.5
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
Feuk, L.4
Halpern, A.L.5
-
31
-
-
78049436589
-
Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing
-
Rosenfeld JA, Malhotra AK, Lencz T, (2010) Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing. Nucleic Acids Res 38: 6102-6111.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. 6102-6111
-
-
Rosenfeld, J.A.1
Malhotra, A.K.2
Lencz, T.3
-
32
-
-
84865530942
-
VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment
-
Habegger L, Balasubramanian S, Chen DZ, Khurana E, Sboner A, et al. (2012) VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment. Bioinformatics 28: 2267-2269.
-
(2012)
Bioinformatics
, vol.28
, pp. 2267-2269
-
-
Habegger, L.1
Balasubramanian, S.2
Chen, D.Z.3
Khurana, E.4
Sboner, A.5
-
33
-
-
84865760395
-
GENCODE: the reference human genome annotation for The ENCODE Project
-
Harrow J, Frankish A, Gonzalez JM, Tapanari E, Diekhans M, et al. (2012) GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res 22: 1760-1774.
-
(2012)
Genome Res
, vol.22
, pp. 1760-1774
-
-
Harrow, J.1
Frankish, A.2
Gonzalez, J.M.3
Tapanari, E.4
Diekhans, M.5
-
34
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, et al. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23: 147.
-
(1999)
Nat Genet
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
Lightowlers, R.N.4
Turnbull, D.M.5
-
35
-
-
33751527925
-
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome
-
Zhang J, Feuk L, Duggan GE, Khaja R, Scherer SW, (2006) 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)
Cytogenet Genome Res
, vol.115
, pp. 205-214
-
-
Zhang, J.1
Feuk, L.2
Duggan, G.E.3
Khaja, R.4
Scherer, S.W.5
-
36
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, et al. (2009) Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A 106: 9362-9367.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
Ramos, E.M.4
Mehta, J.P.5
-
37
-
-
78650895972
-
Loss-of-function variants in the genomes of healthy humans
-
MacArthur DG, Tyler-Smith C, (2010) Loss-of-function variants in the genomes of healthy humans. Hum Mol Genet 19: R125-130.
-
(2010)
Hum Mol Genet
, vol.19
-
-
MacArthur, D.G.1
Tyler-Smith, C.2
-
38
-
-
84863116742
-
A systematic survey of loss-of-function variants in human protein-coding genes
-
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, et al. (2012) A systematic survey of loss-of-function variants in human protein-coding genes. Science 335: 823-828.
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
Balasubramanian, S.2
Frankish, A.3
Huang, N.4
Morris, J.5
-
39
-
-
64849083125
-
CNV-seq, a new method to detect copy number variation using high-throughput sequencing
-
Xie C, Tammi MT, (2009) CNV-seq, a new method to detect copy number variation using high-throughput sequencing. BMC Bioinformatics 10: 80.
-
(2009)
BMC Bioinformatics
, vol.10
, pp. 80
-
-
Xie, C.1
Tammi, M.T.2
-
40
-
-
60849139395
-
GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists
-
Eden E, Navon R, Steinfeld I, Lipson D, Yakhini Z, (2009) GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists. BMC Bioinformatics 10: 48.
-
(2009)
BMC Bioinformatics
, vol.10
, pp. 48
-
-
Eden, E.1
Navon, R.2
Steinfeld, I.3
Lipson, D.4
Yakhini, Z.5
-
41
-
-
36448973787
-
Idiographica: a general-purpose web application to build idiograms on-demand for human, mouse and rat
-
Kin T, Ono Y, (2007) Idiographica: a general-purpose web application to build idiograms on-demand for human, mouse and rat. Bioinformatics 23: 2945-2946.
-
(2007)
Bioinformatics
, vol.23
, pp. 2945-2946
-
-
Kin, T.1
Ono, Y.2
|