-
1
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
The 1000 Genomes Project Consortium. 2012. An integrated map of genetic variation from 1,092 human genomes. Nature 491: 56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
-
2
-
-
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, 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
Kim, D.S.6
Kim, B.C.7
Kim, S.Y.8
Kim, W.Y.9
Kim, C.10
-
3
-
-
79954672317
-
Genome structural variation discovery and genotyping
-
Alkan C, Coe BP, Eichler EE. 2011. Genome structural variation discovery and genotyping. Nat Rev Genet 12: 363-376.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 363-376
-
-
Alkan, C.1
Coe, B.P.2
Eichler, E.E.3
-
4
-
-
84870196858
-
On the structural plasticity of the human genome: Chromosomal inversions revisited
-
Alves JM, Lopes AM, Chikhi L, Amorim A. 2012. On the structural plasticity of the human genome: chromosomal inversions revisited. Curr Genomics 13: 623-632.
-
(2012)
Curr Genomics
, vol.13
, pp. 623-632
-
-
Alves, J.M.1
Lopes, A.M.2
Chikhi, L.3
Amorim, A.4
-
5
-
-
84902959588
-
The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations
-
Alves JM, Chikhi L, Amorim A, Lopes AM. 2014. The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations. Genome Biol Evol 6: 921-930.
-
(2014)
Genome Biol Evol
, vol.6
, pp. 921-930
-
-
Alves, J.M.1
Chikhi, L.2
Amorim, A.3
Lopes, A.M.4
-
6
-
-
84929391388
-
NBPF1, a tumor suppressor candidate in neuroblastoma, exerts growth inhibitory effects by inducing a G1 cell cycle arrest
-
Andries V, Vandepoele K, Staes K, Berx G, Bogaert P, Van Isterdael G, Ginneberge D, Parthoens E, Vandenbussche J, Gevaert K, et al. 2015. NBPF1, a tumor suppressor candidate in neuroblastoma, exerts growth inhibitory effects by inducing a G1 cell cycle arrest. BMC Cancer 15: 391.
-
(2015)
BMC Cancer
, vol.15
, pp. 391
-
-
Andries, V.1
Vandepoele, K.2
Staes, K.3
Berx, G.4
Bogaert, P.5
Van-Isterdael, G.6
Ginneberge, D.7
Parthoens, E.8
Vandenbussche, J.9
Gevaert, K.10
-
7
-
-
67649834757
-
Characterization of six human disease-associated inversion polymorphisms
-
Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P, Jiang Z, Eichler EE. 2009. Characterization of six human disease-associated inversion polymorphisms. Hum Mol Genet 18: 2555-2566.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2555-2566
-
-
Antonacci, F.1
Kidd, J.M.2
Marques-Bonet, T.3
Ventura, M.4
Siswara, P.5
Jiang, Z.6
Eichler, E.E.7
-
8
-
-
0029095603
-
Factor VIII gene inversions in severe hemophilia A: Results of an international consortium study
-
Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Negrier C, Vinciguerra C, et al. 1995. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 86: 2206-2212.
-
(1995)
Blood
, vol.86
, pp. 2206-2212
-
-
Antonarakis, S.E.1
Rossiter, J.P.2
Young, M.3
Horst, J.4
De-Moerloose, P.5
Sommer, S.S.6
Ketterling, R.P.7
Kazazian, H.H.8
Negrier, C.9
Vinciguerra, C.10
-
9
-
-
4444264564
-
Hotspots of mammalian chromosomal evolution
-
Bailey JA, Baertsch R, Kent WJ, Haussler D, Eichler EE. 2004. Hotspots of mammalian chromosomal evolution. Genome Biol 5: R23.
-
(2004)
Genome Biol
, vol.5
, pp. R23
-
-
Bailey, J.A.1
Baertsch, R.2
Kent, W.J.3
Haussler, D.4
Eichler, E.E.5
-
10
-
-
33846877205
-
Evidence for large inversion polymorphisms in the human genome from HapMap data
-
Bansal V, Bashir A, Bafna V. 2007. Evidence for large inversion polymorphisms in the human genome from HapMap data. Genome Res 17: 219-230.
-
(2007)
Genome Res
, vol.17
, pp. 219-230
-
-
Bansal, V.1
Bashir, A.2
Bafna, V.3
-
11
-
-
84876592083
-
A genomic view of mosaicism and human disease
-
Biesecker LG, Spinner NB. 2013. A genomic view of mosaicism and human disease. Nat Rev Genet 14: 307-320.
-
(2013)
Nat Rev Genet
, vol.14
, pp. 307-320
-
-
Biesecker, L.G.1
Spinner, N.B.2
-
12
-
-
0028926890
-
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
-
Bondeson ML, Dahl N, Malmgren H, Kleijer WJ, Tonnesen T, Carlberg BM, Pettersson U. 1995. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 4: 615-621.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 615-621
-
-
Bondeson, M.L.1
Dahl, N.2
Malmgren, H.3
Kleijer, W.J.4
Tonnesen, T.5
Carlberg, B.M.6
Pettersson, U.7
-
13
-
-
84929481938
-
Following the footprints of polymorphic inversions on SNP data: From detection to association tests
-
Caceres A, Gonzalez JR. 2015. Following the footprints of polymorphic inversions on SNP data: from detection to association tests. Nucleic Acids Res 43: e53.
-
(2015)
Nucleic Acids Res
, vol.43
, pp. e53
-
-
Caceres, A.1
Gonzalez, J.R.2
-
14
-
-
43549099991
-
Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication
-
Cardone MF, Jiang Z, D'Addabbo P, Archidiacono N, Rocchi M, Eichler EE, Ventura M. 2008. Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication. Genome Biol 9: R28.
-
(2008)
Genome Biol
, vol.9
, pp. R28
-
-
Cardone, M.F.1
Jiang, Z.2
D'Addabbo, P.3
Archidiacono, N.4
Rocchi, M.5
Eichler, E.E.6
Ventura, M.7
-
15
-
-
84925497196
-
Resolving the complexity of the human genome using singlemolecule sequencing
-
Chaisson MJ, Huddleston J, Dennis MY, Sudmant PH, Malig M, Hormozdiari F, Antonacci F, Surti U, Sandstrom R, Boitano M, et al. 2015. Resolving the complexity of the human genome using singlemolecule sequencing. Nature 517: 608-611.
-
(2015)
Nature
, vol.517
, pp. 608-611
-
-
Chaisson, M.J.1
Huddleston, J.2
Dennis, M.Y.3
Sudmant, P.H.4
Malig, M.5
Hormozdiari, F.6
Antonacci, F.7
Surti, U.8
Sandstrom, R.9
Boitano, M.10
-
16
-
-
79960405019
-
The variant call format and VCFtools
-
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, De Pristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, et al. 2011. The variant call format and VCFtools. Bioinformatics 27: 2156-2158.
-
(2011)
Bioinformatics
, vol.27
, pp. 2156-2158
-
-
Danecek, P.1
Auton, A.2
Abecasis, G.3
Albers, C.A.4
Banks, E.5
De-Pristo, M.A.6
Handsaker, R.E.7
Lunter, G.8
Marth, G.T.9
Sherry, S.T.10
-
17
-
-
84883679009
-
NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
-
Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodriguez Rojas LX, Elton LE, Scott DA, Schaaf CP, et al. 2013. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res 23: 1395-1409.
-
(2013)
Genome Res
, vol.23
, pp. 1395-1409
-
-
Dittwald, P.1
Gambin, T.2
Szafranski, P.3
Li, J.4
Amato, S.5
Divon, M.Y.6
Rodriguez-Rojas, L.X.7
Elton, L.E.8
Scott, D.A.9
Schaaf, C.P.10
-
18
-
-
76349117214
-
The distribution and most recent common ancestor of the 17q21 inversion in humans
-
Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Mehdi SQ, Kajuna SL, Barta C, Kungulilo S, Karoma NJ, Lu RB, et al. 2010. The distribution and most recent common ancestor of the 17q21 inversion in humans. Am J Hum Genet 86: 161-171.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 161-171
-
-
Donnelly, M.P.1
Paschou, P.2
Grigorenko, E.3
Gurwitz, D.4
Mehdi, S.Q.5
Kajuna, S.L.6
Barta, C.7
Kungulilo, S.8
Karoma, N.J.9
Lu, R.B.10
-
19
-
-
84866056199
-
DUF1220-domain copy number implicated in human brain-size pathology and evolution
-
Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, et al. 2012. DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am J Hum Genet 91: 444-454.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 444-454
-
-
Dumas, L.J.1
O'Bleness, M.S.2
Davis, J.M.3
Dickens, C.M.4
Anderson, N.5
Keeney, J.G.6
Jackson, J.7
Sikela, M.8
Raznahan, A.9
Giedd, J.10
-
20
-
-
0035487212
-
Segmental duplications: An 'expanding' role in genomic instability and disease
-
Emanuel BS, Shaikh TH. 2001. Segmental duplications: an 'expanding' role in genomic instability and disease. Nat Rev Genet 2: 791-800.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 791-800
-
-
Emanuel, B.S.1
Shaikh, T.H.2
-
21
-
-
84869096434
-
DNA template strand sequencing of singlecells maps genomic rearrangements at high resolution
-
Falconer E, Hills M, Naumann U, Poon SS, Chavez EA, Sanders AD, Zhao Y, Hirst M, Lansdorp PM. 2012. DNA template strand sequencing of singlecells maps genomic rearrangements at high resolution. Nat Methods 9: 1107-1112.
-
(2012)
Nat Methods
, vol.9
, pp. 1107-1112
-
-
Falconer, E.1
Hills, M.2
Naumann, U.3
Poon, S.S.4
Chavez, E.A.5
Sanders, A.D.6
Zhao, Y.7
Hirst, M.8
Lansdorp, P.M.9
-
22
-
-
77954402321
-
Inversion variants in the human genome: Role in disease and genome architecture
-
Feuk L. 2010. Inversion variants in the human genome: role in disease and genome architecture. Genome Med 2: 11.
-
(2010)
Genome Med
, vol.2
, pp. 11
-
-
Feuk, L.1
-
23
-
-
34147145526
-
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies
-
Feuk L, MacDonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R, Scherer SW. 2005. Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. PLoS Genet 1: e56.
-
(2005)
PLoS Genet
, vol.1
, pp. e56
-
-
Feuk, L.1
MacDonald, J.R.2
Tang, T.3
Carson, A.R.4
Li, M.5
Rao, G.6
Khaja, R.7
Scherer, S.W.8
-
24
-
-
62549134411
-
Mechanisms for human genomic rearrangements
-
Gu W, Zhang F, Lupski JR. 2008. Mechanisms for human genomic rearrangements. Patho Genetics 1: 4.
-
(2008)
Patho Genetics
, vol.1
, pp. 4
-
-
Gu, W.1
Zhang, F.2
Lupski, J.R.3
-
25
-
-
84883693899
-
BAIT: Organizing genomes and mapping rearrangements in single cells
-
Hills M, O'Neill K, Falconer E, Brinkman R, Lansdorp PM. 2013. BAIT: organizing genomes and mapping rearrangements in single cells. Genome Med 5: 82.
-
(2013)
Genome Med
, vol.5
, pp. 82
-
-
Hills, M.1
O'Neill, K.2
Falconer, E.3
Brinkman, R.4
Lansdorp, P.M.5
-
26
-
-
77951563658
-
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome
-
Hobart HH, Morris CA, Mervis CB, Pani AM, Kistler DJ, Rios CM, Kimberley KW, Gregg RG, Bray-Ward P. 2010. Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. Am J Med Genet C Semin Med Genet 154C: 220-228.
-
(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 220-228
-
-
Hobart, H.H.1
Morris, C.A.2
Mervis, C.B.3
Pani, A.M.4
Kistler, D.J.5
Rios, C.M.6
Kimberley, K.W.7
Gregg, R.G.8
Bray-Ward, P.9
-
27
-
-
55549113578
-
Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1
-
Hollox EJ, Barber JC, Brookes AJ, Armour JA. 2008. Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1. Genome Res 18: 1686-1697.
-
(2008)
Genome Res
, vol.18
, pp. 1686-1697
-
-
Hollox, E.J.1
Barber, J.C.2
Brookes, A.J.3
Armour, J.A.4
-
28
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
International Schizophrenia Consortium. 2008. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237-241.
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
-
29
-
-
84891771466
-
The UCSC Genome Browser database: 2014 update
-
Karolchik D, Barber GP, Casper J, Clawson H, Cline MS, Diekhans M, Dreszer TR, Fujita PA, Guruvadoo L, Haeussler M, et al. 2014. The UCSC Genome Browser database: 2014 update. Nucleic Acids Res 42: D764-D770.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D764-D770
-
-
Karolchik, D.1
Barber, G.P.2
Casper, J.3
Clawson, H.4
Cline, M.S.5
Diekhans, M.6
Dreszer, T.R.7
Fujita, P.A.8
Guruvadoo, L.9
Haeussler, M.10
-
30
-
-
0036079158
-
The human genome browser at UCSC
-
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. 2002. The human genome browser at UCSC. Genome Res 12: 996-1006.
-
(2002)
Genome Res
, vol.12
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
Haussler, D.7
-
31
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, et al. 2008. Mapping and sequencing of structural variation from eight human genomes. Nature 453: 56-64.
-
(2008)
Nature
, vol.453
, pp. 56-64
-
-
Kidd, J.M.1
Cooper, G.M.2
Donahue, W.F.3
Hayden, H.S.4
Sampas, N.5
Graves, T.6
Hansen, N.7
Teague, B.8
Alkan, C.9
Antonacci, F.10
-
32
-
-
79251493015
-
A human genome structural variation sequencing resource reveals insights into mutational mechanisms
-
Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, Malig M, Kallicki J, Kaul R, Wilson RK, Eichler EE. 2010. A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell 143: 837-847.
-
(2010)
Cell
, vol.143
, pp. 837-847
-
-
Kidd, J.M.1
Graves, T.2
Newman, T.L.3
Fulton, R.4
Hayden, H.S.5
Malig, M.6
Kallicki, J.7
Kaul, R.8
Wilson, R.K.9
Eichler, E.E.10
-
33
-
-
76749088358
-
Pathological roles of MAPK signaling pathways in human diseases
-
Kim EK, Choi EJ. 2010. Pathological roles of MAPK signaling pathways in human diseases. Biochim Biophys Acta 1802: 396-405.
-
(2010)
Biochim Biophys Acta
, vol.1802
, pp. 396-405
-
-
Kim, E.K.1
Choi, E.J.2
-
34
-
-
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
-
35
-
-
33748323156
-
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
-
Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, et al. 2006. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38: 999-1001.
-
(2006)
Nat Genet
, vol.38
, pp. 999-1001
-
-
Koolen, D.A.1
Vissers, L.E.2
Pfundt, R.3
De-Leeuw, N.4
Knight, S.J.5
Regan, R.6
Kooy, R.F.7
Reyniers, E.8
Romano, C.9
Fichera, M.10
-
36
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, Simons JF, Kim PM, Palejev D, Carriero NJ, Du L, et al. 2007. Paired-end mapping reveals extensive structural variation in the human genome. Science 318: 420-426.
-
(2007)
Science
, vol.318
, pp. 420-426
-
-
Korbel, J.O.1
Urban, A.E.2
Affourtit, J.P.3
Godwin, B.4
Grubert, F.5
Simons, J.F.6
Kim, P.M.7
Palejev, D.8
Carriero, N.J.9
Du, L.10
-
37
-
-
69649109364
-
Circos: An information aesthetic for comparative genomics
-
Krzywinski M, Schein J, Birol I, Connors J, Gascoyne R, Horsman D, Jones SJ, Marra MA. 2009. Circos: an information aesthetic for comparative genomics. Genome Res 19: 1639-1645.
-
(2009)
Genome Res
, vol.19
, pp. 1639-1645
-
-
Krzywinski, M.1
Schein, J.2
Birol, I.3
Connors, J.4
Gascoyne, R.5
Horsman, D.6
Jones, S.J.7
Marra, M.A.8
-
38
-
-
0017711979
-
Flow cytometric analysis of bromodeoxyuridine-substituted cells stained with 33258 Hoechst
-
Latt SA, George YS, Gray JW. 1977. Flow cytometric analysis of bromodeoxyuridine-substituted cells stained with 33258 Hoechst. J Histochem Cytochem 25: 927-934.
-
(1977)
J Histochem Cytochem
, vol.25
, pp. 927-934
-
-
Latt, S.A.1
George, Y.S.2
Gray, J.W.3
-
39
-
-
84883368195
-
Software for computing and annotating genomic ranges
-
Lawrence M, Huber W, Pages H, Aboyoun P, Carlson M, Gentleman R, Morgan MT, Carey VJ. 2013. Software for computing and annotating genomic ranges. PLoS Comput Biol 9: e1003118.
-
(2013)
PLoS Comput Biol
, vol.9
, pp. e1003118
-
-
Lawrence, M.1
Huber, W.2
Pages, H.3
Aboyoun, P.4
Carlson, M.5
Gentleman, R.6
Morgan, M.T.7
Carey, V.J.8
-
40
-
-
84896739948
-
Single cell genomics: Advances and future perspectives
-
Macaulay IC, Voet T. 2014. Single cell genomics: advances and future perspectives. PLoS Genet 10: e1004126.
-
(2014)
PLoS Genet
, vol.10
, pp. e1004126
-
-
Macaulay, I.C.1
Voet, T.2
-
41
-
-
84891783452
-
The Database of Genomic Variants: A curated collection of structural variation in the human genome
-
MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW. 2014. The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 42: D986-D992.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D986-D992
-
-
MacDonald, J.R.1
Ziman, R.2
Yuen, R.K.3
Feuk, L.4
Scherer, S.W.5
-
42
-
-
84891785351
-
InvFEST, a database integrating information of polymorphic inversions in the human genome
-
Martinez-Fundichely A, Casillas S, Egea R, Ramia M, Barbadilla A, Pantano L, Puig M, Caceres M. 2014. InvFEST, a database integrating information of polymorphic inversions in the human genome. Nucleic Acids Res 42: D1027-D1032.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D1027-D1032
-
-
Martinez-Fundichely, A.1
Casillas, S.2
Egea, R.3
Ramia, M.4
Barbadilla, A.5
Pantano, L.6
Puig, M.7
Caceres, M.8
-
43
-
-
0027225619
-
Cytokine-induced selective expansion and maturation of erythroid versus myeloid progenitors from purified cord blood precursor cells
-
Mayani H, Dragowska W, Lansdorp PM. 1993. Cytokine-induced selective expansion and maturation of erythroid versus myeloid progenitors from purified cord blood precursor cells. Blood 81: 3252-3258.
-
(1993)
Blood
, vol.81
, pp. 3252-3258
-
-
Mayani, H.1
Dragowska, W.2
Lansdorp, P.M.3
-
44
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, 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
Alkan, C.6
Abyzov, A.7
Yoon, S.C.8
Ye, K.9
Cheetham, R.K.10
-
45
-
-
0032746791
-
Isolation and characterization of a novel TP53-inducible gene, TP53TG3
-
Ng CC, Koyama K, Okamura S, Kondoh H, Takei Y, Nakamura Y. 1999. Isolation and characterization of a novel TP53-inducible gene, TP53TG3. Genes Chromosomes Cancer 26: 329-335.
-
(1999)
Genes Chromosomes Cancer
, vol.26
, pp. 329-335
-
-
Ng, C.C.1
Koyama, K.2
Okamura, S.3
Kondoh, H.4
Takei, Y.5
Nakamura, Y.6
-
46
-
-
79960106880
-
Isolation of single human hematopoietic stem cells capable of long-term multilineage engraftment
-
Notta F, Doulatov S, Laurenti E, Poeppl A, Jurisica I, Dick JE. 2011. Isolation of single human hematopoietic stem cells capable of long-term multilineage engraftment. Science 333: 218-221.
-
(2011)
Science
, vol.333
, pp. 218-221
-
-
Notta, F.1
Doulatov, S.2
Laurenti, E.3
Poeppl, A.4
Jurisica, I.5
Dick, J.E.6
-
47
-
-
0035179436
-
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
-
Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, et al. 2001. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 29: 321-325.
-
(2001)
Nat Genet
, vol.29
, pp. 321-325
-
-
Osborne, L.R.1
Li, M.2
Pober, B.3
Chitayat, D.4
Bodurtha, J.5
Mandel, A.6
Costa, T.7
Grebe, T.8
Cox, S.9
Tsui, L.C.10
-
48
-
-
77952296952
-
Towards a comprehensive structural variation map of an individual human genome
-
Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, et al. 2010. Towards a comprehensive structural variation map of an individual human genome. Genome Biol 11: R52.
-
(2010)
Genome Biol
, vol.11
, pp. R52
-
-
Pang, A.W.1
MacDonald, J.R.2
Pinto, D.3
Wei, J.4
Rafiq, M.A.5
Conrad, D.F.6
Park, H.7
Hurles, M.E.8
Lee, C.9
Venter, J.C.10
-
49
-
-
77951770756
-
BEDTools: A flexible suite of utilities for comparing genomic features
-
Quinlan AR, Hall IM. 2010. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26: 841-842.
-
(2010)
Bioinformatics
, vol.26
, pp. 841-842
-
-
Quinlan, A.R.1
Hall, I.M.2
-
51
-
-
84995673327
-
-
Vienna, Austria
-
R Foundation for Statistical Computing, Vienna, Austria. http://www.R-project.org/.
-
-
-
-
52
-
-
84975741816
-
Characterization of structural variants with single molecule and hybrid sequencing approaches
-
Ritz A, Bashir A, Sindi S, Hsu D, Hajirasouliha I, Raphael BJ. 2014. Characterization of structural variants with single molecule and hybrid sequencing approaches. Bioinformatics 30: 3458-3466.
-
(2014)
Bioinformatics
, vol.30
, pp. 3458-3466
-
-
Ritz, A.1
Bashir, A.2
Sindi, S.3
Hsu, D.4
Hajirasouliha, I.5
Raphael, B.J.6
-
53
-
-
84861879064
-
The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism
-
Salm MP, Horswell SD, Hutchison CE, Speedy HE, Yang X, Liang L, Schadt EE, Cookson WO, Wierzbicki AS, Naoumova RP, et al. 2012. The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism. Genome Res 22: 1144-1153.
-
(2012)
Genome Res
, vol.22
, pp. 1144-1153
-
-
Salm, M.P.1
Horswell, S.D.2
Hutchison, C.E.3
Speedy, H.E.4
Yang, X.5
Liang, L.6
Schadt, E.E.7
Cookson, W.O.8
Wierzbicki, A.S.9
Naoumova, R.P.10
-
54
-
-
0036245495
-
Segmental duplications and the evolution of the primate genome
-
Samonte RV, Eichler EE. 2002. Segmental duplications and the evolution of the primate genome. Nat Rev Genet 3: 65-72.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 65-72
-
-
Samonte, R.V.1
Eichler, E.E.2
-
55
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, et al. 2008. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 40: 322-328.
-
(2008)
Nat Genet
, vol.40
, pp. 322-328
-
-
Sharp, A.J.1
Mefford, H.C.2
Li, K.3
Baker, C.4
Skinner, C.5
Stevenson, R.E.6
Schroer, R.J.7
Novara, F.8
De-Gregori, M.9
Ciccone, R.10
-
56
-
-
33748300645
-
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
-
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, et al. 2006. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 38: 1032-1037.
-
(2006)
Nat Genet
, vol.38
, pp. 1032-1037
-
-
Shaw-Smith, C.1
Pittman, A.M.2
Willatt, L.3
Martin, H.4
Rickman, L.5
Gribble, S.6
Curley, R.7
Cumming, S.8
Dunn, C.9
Kalaitzopoulos, D.10
-
57
-
-
77949831756
-
Structural variation in the human genome and its role in disease
-
Stankiewicz P, Lupski JR. 2010. Structural variation in the human genome and its role in disease. Annu Rev Med 61: 437-455.
-
(2010)
Annu Rev Med
, vol.61
, pp. 437-455
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
58
-
-
13944278863
-
A common inversion under selection in Europeans
-
Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, et al. 2005. A common inversion under selection in Europeans. Nat Genet 37: 129-137.
-
(2005)
Nat Genet
, vol.37
, pp. 129-137
-
-
Stefansson, H.1
Helgason, A.2
Thorleifsson, G.3
Steinthorsdottir, V.4
Masson, G.5
Barnard, J.6
Baker, A.7
Jonasdottir, A.8
Ingason, A.9
Gudnadottir, V.G.10
-
59
-
-
84943182461
-
An integrated map of structural variation in 2,504 human genomes
-
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, et al. 2015. An integrated map of structural variation in 2,504 human genomes. Nature 526: 75-81.
-
(2015)
Nature
, vol.526
, pp. 75-81
-
-
Sudmant, P.H.1
Rausch, T.2
Gardner, E.J.3
Handsaker, R.E.4
Abyzov, A.5
Huddleston, J.6
Zhang, Y.7
Ye, K.8
Jun, G.9
Hsi-Yang-Fritz, M.10
-
60
-
-
47349123482
-
The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms
-
Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR. 2008. The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms. Am J Med Genet A 146A: 1797-1806.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1797-1806
-
-
Tam, E.1
Young, E.J.2
Morris, C.A.3
Marshall, C.R.4
Loo, W.5
Scherer, S.W.6
Mervis, C.B.7
Osborne, L.R.8
-
61
-
-
77954648699
-
High-resolution human genome structure by single-molecule analysis
-
Teague B, Waterman MS, Goldstein S, Potamousis K, Zhou S, Reslewic S, Sarkar D, Valouev A, Churas C, Kidd JM, et al. 2010. High-resolution human genome structure by single-molecule analysis. Proc Natl Acad Sci 107: 10848-10853.
-
(2010)
Proc Natl Acad Sci
, vol.107
, pp. 10848-10853
-
-
Teague, B.1
Waterman, M.S.2
Goldstein, S.3
Potamousis, K.4
Zhou, S.5
Reslewic, S.6
Sarkar, D.7
Valouev, A.8
Churas, C.9
Kidd, J.M.10
-
62
-
-
33744514622
-
Assaying chromosomal inversions by single-molecule haplotyping
-
Turner DJ, Shendure J, Porreca G, Church G, Green P, Tyler-Smith C, Hurles ME. 2006. Assaying chromosomal inversions by single-molecule haplotyping. Nat Methods 3: 439-445.
-
(2006)
Nat Methods
, vol.3
, pp. 439-445
-
-
Turner, D.J.1
Shendure, J.2
Porreca, G.3
Church, G.4
Green, P.5
Tyler-Smith, C.6
Hurles, M.E.7
-
63
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, et al. 2005. Fine-scale structural variation of the human genome. Nat Genet 37: 727-732.
-
(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
-
64
-
-
26444529054
-
A novel gene family NBPF: Intricate structure generated by gene duplications during primate evolution
-
Vandepoele K, Van Roy N, Staes K, Speleman F, van Roy F. 2005. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Mol Biol Evol 22: 2265-2274.
-
(2005)
Mol Biol Evol
, vol.22
, pp. 2265-2274
-
-
Vandepoele, K.1
Van-Roy, N.2
Staes, K.3
Speleman, F.4
Van-Roy, F.5
-
65
-
-
84863236756
-
Testing departure from Hardy-Weinberg proportions
-
Wang J, Shete S. 2012. Testing departure from Hardy-Weinberg proportions. Methods Mol Biol 850: 77-102.
-
(2012)
Methods Mol Biol
, vol.850
, pp. 77-102
-
-
Wang, J.1
Shete, S.2
-
66
-
-
33846006596
-
A comprehensive analysis of common copy-number variations in the human genome
-
Wong KK, de Leeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, MacAulay C, Ng RT, Brown CJ, Eichler EE, et al. 2007. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80: 91-104.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 91-104
-
-
Wong, K.K.1
De-Leeuw, R.J.2
Dosanjh, N.S.3
Kimm, L.R.4
Cheng, Z.5
Horsman, D.E.6
MacAulay, C.7
Ng, R.T.8
Brown, C.J.9
Eichler, E.E.10
-
67
-
-
1842530039
-
A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities
-
Youings S, Ellis K, Ennis S, Barber J, Jacobs P. 2004. A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. Am J Med Genet A 126A: 46-60.
-
(2004)
Am J Med Genet A
, vol.126 A
, pp. 46-60
-
-
Youings, S.1
Ellis, K.2
Ennis, S.3
Barber, J.4
Jacobs, P.5
-
68
-
-
50449104624
-
Evolutionary toggling of the MAPT 17q21.31 inversion region
-
Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, et al. 2008. Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet 40: 1076-1083.
-
(2008)
Nat Genet
, vol.40
, pp. 1076-1083
-
-
Zody, M.C.1
Jiang, Z.2
Fung, H.C.3
Antonacci, F.4
Hillier, L.W.5
Cardone, M.F.6
Graves, T.A.7
Kidd, J.M.8
Cheng, Z.9
Abouelleil, A.10
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