-
1
-
-
82555161920
-
Human genome finally complete
-
Noble I: Human genome finally complete. BBC news. 2003
-
(2003)
BBC news
-
-
Noble, I.1
-
2
-
-
2642580020
-
Quality assessment of the human genome sequence
-
Schmutz J, Wheeler J, Grimwood J, Dickson M, Yang J, Caoile C, Bajorek E, Black S, Chan YM, Denys M: Quality assessment of the human genome sequence. Nature. 2004, 429 (6990): 365-368. 10.1038/nature02390.
-
(2004)
Nature
, vol.429
, Issue.6990
, pp. 365-368
-
-
Schmutz, J.1
Wheeler, J.2
Grimwood, J.3
Dickson, M.4
Yang, J.5
Caoile, C.6
Bajorek, E.7
Black, S.8
Chan, Y.M.9
Denys, M.10
-
3
-
-
79951481957
-
Initial impact of the sequencing of the human genome
-
Lander ES: Initial impact of the sequencing of the human genome. Nature. 2011, 470 (7333): 187-197. 10.1038/nature09792.
-
(2011)
Nature
, vol.470
, Issue.7333
, pp. 187-197
-
-
Lander, E.S.1
-
4
-
-
80053006367
-
Decoding the genome beyond sequencing: the new phase of genomic research
-
Heng HH, Liu G, Stevens JB, Bremer SW, Ye KJ, Abdallah BY, Horne SD, Ye CJ: Decoding the genome beyond sequencing: the new phase of genomic research. Genomics. 2011, 98 (4): 242-252. 10.1016/j.ygeno.2011.05.008.
-
(2011)
Genomics
, vol.98
, Issue.4
, pp. 242-252
-
-
Heng, H.H.1
Liu, G.2
Stevens, J.B.3
Bremer, S.W.4
Ye, K.J.5
Abdallah, B.Y.6
Horne, S.D.7
Ye, C.J.8
-
5
-
-
20244380171
-
Complement factor H polymorphism in age-related macular degeneration
-
Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST: Complement factor H polymorphism in age-related macular degeneration. Science. 2005, 308 (5720): 385-389. 10.1126/science.1109557.
-
(2005)
Science
, vol.308
, Issue.5720
, pp. 385-389
-
-
Klein, R.J.1
Zeiss, C.2
Chew, E.Y.3
Tsai, J.Y.4
Sackler, R.S.5
Haynes, C.6
Henning, A.K.7
SanGiovanni, J.P.8
Mane, S.M.9
Mayne, S.T.10
-
6
-
-
84891790401
-
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
-
Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A, Flicek P, Manolio T, Hindorff L: The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res. 2014, 42 (Database): D1001-1006.
-
(2014)
Nucleic Acids Res
, vol.42
, Issue.DATABASE
, pp. D1001-1006
-
-
Welter, D.1
MacArthur, J.2
Morales, J.3
Burdett, T.4
Hall, P.5
Junkins, H.6
Klemm, A.7
Flicek, P.8
Manolio, T.9
Hindorff, L.10
-
7
-
-
84961578106
-
Genome-Wide Association Studies of Type 2 Diabetes: Current Status, Open Challenges, and Future Perspectives
-
Edited by: D B, K B, MA M. CRC Press
-
Hong H, Xu L, Mendrick DL, Tong W: Genome-Wide Association Studies of Type 2 Diabetes: Current Status, Open Challenges, and Future Perspectives. OMICS: Biomedical Perspectives and Applications. Edited by: D B, K B, MA M. 2011, CRC Press, 401-430.
-
(2011)
OMICS: Biomedical Perspectives and Applications
, pp. 401-430
-
-
Hong, H.1
Xu, L.2
Mendrick, D.L.3
Tong, W.4
-
8
-
-
53649106195
-
Next-generation DNA sequencing
-
Shendure J, Ji H: Next-generation DNA sequencing. Nat Biotechnol. 2008, 26 (10): 1135-1145. 10.1038/nbt1486.
-
(2008)
Nat Biotechnol
, vol.26
, Issue.10
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
9
-
-
77952574849
-
Uncovering the roles of rare variants in common disease through whole-genome sequencing
-
Cirulli ET, Goldstein DB: Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet. 2010, 11 (6): 415-425. 10.1038/nrg2779.
-
(2010)
Nat Rev Genet
, vol.11
, Issue.6
, pp. 415-425
-
-
Cirulli, E.T.1
Goldstein, D.B.2
-
10
-
-
84874008918
-
Evaluating rare variants in complex disorders using next-generation sequencing
-
Ezewudo M, Zwick ME: Evaluating rare variants in complex disorders using next-generation sequencing. Curr Psychiatry Rep. 2013, 15 (4): 349-
-
(2013)
Curr Psychiatry Rep
, vol.15
, Issue.4
, pp. 349
-
-
Ezewudo, M.1
Zwick, M.E.2
-
11
-
-
64149123778
-
Next-generation sequencing: from basic research to diagnostics
-
Voelkerding KV, Dames SA, Durtschi JD: Next-generation sequencing: from basic research to diagnostics. Clin Chem. 2009, 55 (4): 641-658. 10.1373/clinchem.2008.112789.
-
(2009)
Clin Chem
, vol.55
, Issue.4
, pp. 641-658
-
-
Voelkerding, K.V.1
Dames, S.A.2
Durtschi, J.D.3
-
12
-
-
84882242146
-
Next generation sequencing and rare genetic variants: from human population studies to medical genetics
-
Matullo G, Di Gaetano C, Guarrera S: Next generation sequencing and rare genetic variants: from human population studies to medical genetics. Environ Mol Mutagen. 2013, 54 (7): 518-532. 10.1002/em.21799.
-
(2013)
Environ Mol Mutagen
, vol.54
, Issue.7
, pp. 518-532
-
-
Matullo, G.1
Di Gaetano, C.2
Guarrera, S.3
-
13
-
-
39649117755
-
The impact of next-generation sequencing technology on genetics
-
Mardis ER: The impact of next-generation sequencing technology on genetics. Trends Genet. 2008, 24 (3): 133-141. 10.1016/j.tig.2007.12.007.
-
(2008)
Trends Genet
, vol.24
, Issue.3
, pp. 133-141
-
-
Mardis, E.R.1
-
14
-
-
84873705940
-
Critical role of bioinformatics in translating huge amounts of next-generation sequencing data into personalized medicine
-
Hong H, Zhang W, Shen J, Su Z, Ning B, Han T, Perkins R, Shi L, Tong W: Critical role of bioinformatics in translating huge amounts of next-generation sequencing data into personalized medicine. Sci China Life Sci. 2013, 56 (2): 110-118. 10.1007/s11427-013-4439-7.
-
(2013)
Sci China Life Sci
, vol.56
, Issue.2
, pp. 110-118
-
-
Hong, H.1
Zhang, W.2
Shen, J.3
Su, Z.4
Ning, B.5
Han, T.6
Perkins, R.7
Shi, L.8
Tong, W.9
-
15
-
-
84956747587
-
Next-Generation Sequencing (NGS): A Revolutionary Technology in Pharmacogenomics and Personalized Medicine
-
Springer India
-
Hong H, Zhang W, Su Z, Shen J, Ge W, Ning B, Fang H, Perkins R, Shi L, Tong W: Next-Generation Sequencing (NGS): A Revolutionary Technology in Pharmacogenomics and Personalized Medicine. Omics for Personalized Medicine. 2013, Springer India, 39-61.
-
(2013)
Omics for Personalized Medicine
, pp. 39-61
-
-
Hong, H.1
Zhang, W.2
Su, Z.3
Shen, J.4
Ge, W.5
Ning, B.6
Fang, H.7
Perkins, R.8
Shi, L.9
Tong, W.10
-
16
-
-
84857641821
-
Differential confounding of rare and common variants in spatially structured populations
-
Mathieson I, McVean G: Differential confounding of rare and common variants in spatially structured populations. Nat Genet. 2012, 44 (3): 243-246. 10.1038/ng.1074.
-
(2012)
Nat Genet
, vol.44
, Issue.3
, pp. 243-246
-
-
Mathieson, I.1
McVean, G.2
-
17
-
-
79960946869
-
Rare and common regulatory variation in population-scale sequenced human genomes
-
Montgomery SB, Lappalainen T, Gutierrez-Arcelus M, Dermitzakis ET: Rare and common regulatory variation in population-scale sequenced human genomes. PLoS Genet. 2011, 7 (7): e1002144-10.1371/journal.pgen.1002144.
-
(2011)
PLoS Genet
, vol.7
, Issue.7
, pp. e1002144
-
-
Montgomery, S.B.1
Lappalainen, T.2
Gutierrez-Arcelus, M.3
Dermitzakis, E.T.4
-
18
-
-
84881664021
-
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
-
Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M: Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet. 2013, 93 (2): 249-263. 10.1016/j.ajhg.2013.06.012.
-
(2013)
Am J Hum Genet
, vol.93
, Issue.2
, pp. 249-263
-
-
Jiang, Y.H.1
Yuen, R.K.2
Jin, X.3
Wang, M.4
Chen, N.5
Wu, X.6
Ju, J.7
Mei, J.8
Shi, Y.9
He, M.10
-
19
-
-
84889853996
-
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship
-
Liu G, Guo S, Kang H, Zhang F, Hu Y, Wang L, Li M, Ru Y, Camaschella C, Han B: Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship. Haematologica. 2013, 98 (12): e158-160. 10.3324/haematol.2013.095513.
-
(2013)
Haematologica
, vol.98
, Issue.12
, pp. e158-160
-
-
Liu, G.1
Guo, S.2
Kang, H.3
Zhang, F.4
Hu, Y.5
Wang, L.6
Li, M.7
Ru, Y.8
Camaschella, C.9
Han, B.10
-
20
-
-
77953006634
-
The mutation spectrum revealed by paired genome sequences from a lung cancer patient
-
Lee W, Jiang Z, Liu J, Haverty PM, Guan Y, Stinson J, Yue P, Zhang Y, Pant KP, Bhatt D: The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature. 2010, 465 (7297): 473-477. 10.1038/nature09004.
-
(2010)
Nature
, vol.465
, Issue.7297
, pp. 473-477
-
-
Lee, W.1
Jiang, Z.2
Liu, J.3
Haverty, P.M.4
Guan, Y.5
Stinson, J.6
Yue, P.7
Zhang, Y.8
Pant, K.P.9
Bhatt, D.10
-
21
-
-
79959503826
-
The International HapMap Project
-
The International HapMap Consortium: The International HapMap Project. Nature. 2003, 426 (6968): 789-796. 10.1038/nature02168.
-
(2003)
Nature
, vol.426
, Issue.6968
, pp. 789-796
-
-
-
22
-
-
38549122239
-
International genome project launched
-
Hayden EC: International genome project launched. Nature. 2008, 451 (7177): 378-379.
-
(2008)
Nature
, vol.451
, Issue.7177
, pp. 378-379
-
-
Hayden, E.C.1
-
23
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM: A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007, 449 (7164): 851-861. 10.1038/nature06258.
-
(2007)
Nature
, vol.449
, Issue.7164
, pp. 851-861
-
-
Frazer, K.A.1
Ballinger, D.G.2
Cox, D.R.3
Hinds, D.A.4
Stuve, L.L.5
Gibbs, R.A.6
Belmont, J.W.7
Boudreau, A.8
Hardenbol, P.9
Leal, S.M.10
-
24
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Bonnen PE, de Bakker PI, Deloukas P, Gabriel SB: Integrating common and rare genetic variation in diverse human populations. Nature. 2010, 467 (7311): 52-58. 10.1038/nature09298.
-
(2010)
Nature
, vol.467
, Issue.7311
, pp. 52-58
-
-
Altshuler, D.M.1
Gibbs, R.A.2
Peltonen, L.3
Dermitzakis, E.4
Schaffner, S.F.5
Yu, F.6
Bonnen, P.E.7
de Bakker, P.I.8
Deloukas, P.9
Gabriel, S.B.10
-
25
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA: A map of human genome variation from population-scale sequencing. Nature. 2010, 467 (7319): 1061-1073. 10.1038/nature09534.
-
(2010)
Nature
, vol.467
, Issue.7319
, pp. 1061-1073
-
-
Abecasis, G.R.1
Altshuler, D.2
Auton, A.3
Brooks, L.D.4
Durbin, R.M.5
Gibbs, R.A.6
Hurles, M.E.7
McVean, G.A.8
-
26
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA: An integrated map of genetic variation from 1,092 human genomes. Nature. 2012, 491 (7422): 56-65. 10.1038/nature11632.
-
(2012)
Nature
, vol.491
, Issue.7422
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
DePristo, M.A.4
Durbin, R.M.5
Handsaker, R.E.6
Kang, H.M.7
Marth, G.T.8
McVean, G.A.9
-
27
-
-
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, Kim DS, Kim BC, Kim SY, Kim WY, Kim C: The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res. 2009, 19 (9): 1622-1629. 10.1101/gr.092197.109.
-
(2009)
Genome Res
, vol.19
, Issue.9
, pp. 1622-1629
-
-
Ahn, S.M.1
Kim, T.H.2
Lee, S.3
Kim, D.4
Ghang, H.5
Kim, D.S.6
Kim, B.C.7
Kim, S.Y.8
Kim, W.Y.9
Kim, C.10
-
28
-
-
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, Shin JY, Lee S, Lee WC, Yu SB, Park SS: Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals. Nat Genet. 2011, 43 (8): 745-752. 10.1038/ng.872.
-
(2011)
Nat Genet
, vol.43
, Issue.8
, pp. 745-752
-
-
Ju, Y.S.1
Kim, J.I.2
Kim, S.3
Hong, D.4
Park, H.5
Shin, J.Y.6
Lee, S.7
Lee, W.C.8
Yu, S.B.9
Park, S.S.10
-
29
-
-
69249232047
-
A highly annotated whole-genome sequence of a Korean individual
-
Kim JI, Ju YS, Park H, Kim S, Lee S, Yi JH, Mudge J, Miller NA, Hong D, Bell CJ: A highly annotated whole-genome sequence of a Korean individual. Nature. 2009, 460 (7258): 1011-1015.
-
(2009)
Nature
, vol.460
, Issue.7258
, pp. 1011-1015
-
-
Kim, J.I.1
Ju, Y.S.2
Park, H.3
Kim, S.4
Lee, S.5
Yi, J.H.6
Mudge, J.7
Miller, N.A.8
Hong, D.9
Bell, C.J.10
-
30
-
-
71549117905
-
Gevab: a prototype genome variation analysis browsing server
-
Kim WY, Kim SY, Kim TH, Ahn SM, Byun HN, Kim D, Kim DS, Lee YS, Ghang H, Park D: Gevab: a prototype genome variation analysis browsing server. BMC Bioinformatics. 2009, 10 (Suppl 15): S3-10.1186/1471-2105-10-S15-S3.
-
(2009)
BMC Bioinformatics
, vol.10
, pp. S3
-
-
Kim, W.Y.1
Kim, S.Y.2
Kim, T.H.3
Ahn, S.M.4
Byun, H.N.5
Kim, D.6
Kim, D.S.7
Lee, Y.S.8
Ghang, H.9
Park, D.10
-
31
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R: Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009, 25 (14): 1754-1760. 10.1093/bioinformatics/btp324.
-
(2009)
Bioinformatics
, vol.25
, Issue.14
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
32
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R: The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009, 25 (16): 2078-2079. 10.1093/bioinformatics/btp352.
-
(2009)
Bioinformatics
, vol.25
, Issue.16
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
33
-
-
67650711615
-
SOAP2: an improved ultrafast tool for short read alignment
-
Li R, Yu C, Li Y, Lam TW, Yiu SM, Kristiansen K, Wang J: SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics. 2009, 25 (15): 1966-1967. 10.1093/bioinformatics/btp336.
-
(2009)
Bioinformatics
, vol.25
, Issue.15
, pp. 1966-1967
-
-
Li, R.1
Yu, C.2
Li, Y.3
Lam, T.W.4
Yiu, S.M.5
Kristiansen, K.6
Wang, J.7
-
34
-
-
66449114324
-
SNP detection for massively parallel whole-genome resequencing
-
Li R, Li Y, Fang X, Yang H, Wang J, Kristiansen K: SNP detection for massively parallel whole-genome resequencing. Genome Res. 2009, 19 (6): 1124-1132. 10.1101/gr.088013.108.
-
(2009)
Genome Res
, vol.19
, Issue.6
, pp. 1124-1132
-
-
Li, R.1
Li, Y.2
Fang, X.3
Yang, H.4
Wang, J.5
Kristiansen, K.6
-
35
-
-
84875608234
-
The UCSC genome browser and associated tools
-
Kuhn RM, Haussler D, Kent WJ: The UCSC genome browser and associated tools. Brief Bioinform. 2013, 14 (2): 144-161. 10.1093/bib/bbs038.
-
(2013)
Brief Bioinform
, vol.14
, Issue.2
, pp. 144-161
-
-
Kuhn, R.M.1
Haussler, D.2
Kent, W.J.3
-
36
-
-
77955405475
-
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
-
McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F: Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics. 2010, 26 (16): 2069-2070. 10.1093/bioinformatics/btq330.
-
(2010)
Bioinformatics
, vol.26
, Issue.16
, pp. 2069-2070
-
-
McLaren, W.1
Pritchard, B.2
Rios, D.3
Chen, Y.4
Flicek, P.5
Cunningham, F.6
-
37
-
-
23144464901
-
WebGestalt: an integrated system for exploring gene sets in various biological contexts
-
Zhang B, Kirov S, Snoddy J: WebGestalt: an integrated system for exploring gene sets in various biological contexts. Nucleic Acids Res. 2005, 33 (Web Server): W741-748. 10.1093/nar/gki475.
-
(2005)
Nucleic Acids Res
, vol.33
, Issue.WEB SERVER
, pp. W741-748
-
-
Zhang, B.1
Kirov, S.2
Snoddy, J.3
-
38
-
-
84880617636
-
WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013
-
Wang J, Duncan D, Shi Z, Zhang B: WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013. Nucleic Acids Res. 2013, 41 (Web Server): W77-83.
-
(2013)
Nucleic Acids Res
, vol.41
, Issue.WEB SERVER
, pp. W77-83
-
-
Wang, J.1
Duncan, D.2
Shi, Z.3
Zhang, B.4
-
39
-
-
0001677717
-
Controlling the false discovery rate: a practical and powerful approach to multiple testing
-
Benjamini Y, Hochberg Y: Controlling the false discovery rate: a practical and powerful approach to multiple testing. Journal of the Royal Statistical Society Series. 1995, B (57): 289-300.
-
(1995)
Journal of the Royal Statistical Society Series
, vol.PART B
, Issue.57
, pp. 289-300
-
-
Benjamini, Y.1
Hochberg, Y.2
-
40
-
-
84862908315
-
Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing
-
Reumers J, De Rijk P, Zhao H, Liekens A, Smeets D, Cleary J, Van Loo P, Van Den Bossche M, Catthoor K, Sabbe B: Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing. Nat Biotechnol. 2012, 30 (1): 61-68.
-
(2012)
Nat Biotechnol
, vol.30
, Issue.1
, pp. 61-68
-
-
Reumers, J.1
De Rijk, P.2
Zhao, H.3
Liekens, A.4
Smeets, D.5
Cleary, J.6
Van Loo, P.7
Van Den Bossche, M.8
Catthoor, K.9
Sabbe, B.10
-
41
-
-
84857956783
-
Detecting and annotating genetic variations using the HugeSeq pipeline
-
Lam HY, Pan C, Clark MJ, Lacroute P, Chen R, Haraksingh R, O'Huallachain M, Gerstein MB, Kidd JM, Bustamante CD: Detecting and annotating genetic variations using the HugeSeq pipeline. Nat Biotechnol. 2012, 30 (3): 226-229. 10.1038/nbt.2134.
-
(2012)
Nat Biotechnol
, vol.30
, Issue.3
, pp. 226-229
-
-
Lam, H.Y.1
Pan, C.2
Clark, M.J.3
Lacroute, P.4
Chen, R.5
Haraksingh, R.6
O'Huallachain, M.7
Gerstein, M.B.8
Kidd, J.M.9
Bustamante, C.D.10
-
42
-
-
75749103383
-
Rate, molecular spectrum, and consequences of human mutation
-
Lynch M: Rate, molecular spectrum, and consequences of human mutation. Proc Natl Acad Sci USA. 2010, 107 (3): 961-968. 10.1073/pnas.0912629107.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.3
, pp. 961-968
-
-
Lynch, M.1
|