-
1
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
10.1016/S0168-9525(98)01555-8 9820031
-
Lupski JR Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998 14 417-422 10.1016/S0168-9525(98)01555-8 9820031
-
(1998)
Trends Genet
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
2
-
-
1842526843
-
Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
-
10.1093/hmg/ddh073
-
Shaw CJ Lupski JR Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease. Hum Mol Genet 2004 13 Suppl 1 R57-64 10.1093/hmg/ddh073
-
(2004)
Hum Mol Genet
, vol.13
, Issue.SUPPL. 1
-
-
Shaw, C.J.1
Lupski, J.R.2
-
3
-
-
33746741125
-
Copy number variation: New insights in genome diversity
-
10.1101/gr.3677206 16809666
-
Freeman JL Perry GH Feuk L Redon R McCarroll SA Altshuler DM Aburatani H Jones KW Tyler-Smith C Hurles ME et al. Copy number variation: New insights in genome diversity. Genome Res 2006 16 949-961 10.1101/ gr.3677206 16809666
-
(2006)
Genome Res
, vol.16
, pp. 949-961
-
-
Freeman, J.L.1
Perry, G.H.2
Feuk, L.3
Redon, R.4
McCarroll, S.A.5
Altshuler, D.M.6
Aburatani, H.7
Jones, K.W.8
Tyler-Smith, C.9
Hurles, M.E.10
-
4
-
-
31144469134
-
Structural variation in the human genome
-
10.1038/nrg1767 16418744
-
Feuk L Carson AR Scherer SW Structural variation in the human genome. Nat Rev Genet 2006 7 85-97 10.1038/nrg1767 16418744
-
(2006)
Nat Rev Genet
, vol.7
, pp. 85-97
-
-
Feuk, L.1
Carson, A.R.2
Scherer, S.W.3
-
5
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
10.1126/science.1098918 15273396
-
Sebat J Lakshmi B Troge J Alexander J Young J Lundin P Maner S Massa H Walker M Chi M et al. Large-scale copy number polymorphism in the human genome. Science 2004 305 525-528 10.1126/science.1098918 15273396
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
-
6
-
-
0033957472
-
dbSNP: A database of single nucleotide polymorphisms
-
102496 10592272 10.1093/nar/28.1.352
-
Smigielski EM Sirotkin K Ward M Sherry ST dbSNP: A database of single nucleotide polymorphisms. Nucleic Acids Res 2000 28 352-355 102496 10592272 10.1093/nar/28.1.352
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 352-355
-
-
Smigielski, E.M.1
Sirotkin, K.2
Ward, M.3
Sherry, S.T.4
-
7
-
-
0036427359
-
The cancer genome anatomy project: Online resources to reveal the molecular signatures of cancer
-
10.1081/CNV-120005922 12449737
-
Strausberg RL Buetow KH Greenhut SF Grouse LH Schaefer CF The cancer genome anatomy project: Online resources to reveal the molecular signatures of cancer. Cancer Invest 2002 20 1038-1050 10.1081/ CNV-120005922 12449737
-
(2002)
Cancer Invest
, vol.20
, pp. 1038-1050
-
-
Strausberg, R.L.1
Buetow, K.H.2
Greenhut, S.F.3
Grouse, L.H.4
Schaefer, C.F.5
-
8
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
10.1038/ng1416 15286789
-
Iafrate AJ Feuk L Rivera MN Listewnik ML Donahoe PK Qi Y Scherer SW Lee C Detection of large-scale variation in the human genome. Nat Genet 2004 36 949-951 10.1038/ng1416 15286789
-
(2004)
Nat Genet
, vol.36
, 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
-
9
-
-
27544446224
-
The International HapMap Project Web site
-
1310647 16251469 10.1101/gr.4413105
-
Thorisson GA Smith AV Krishnan L Stein LD The International HapMap Project Web site. Genome Res 2005 15 1592-1593 1310647 16251469 10.1101/ gr.4413105
-
(2005)
Genome Res
, vol.15
, pp. 1592-1593
-
-
Thorisson, G.A.1
Smith, A.V.2
Krishnan, L.3
Stein, L.D.4
-
11
-
-
25844484059
-
The patterns of natural variation in human genes
-
10.1146/annurev.genom.6.080604.162309 16124863
-
Crawford DC Akey DT Nickerson DA The patterns of natural variation in human genes. Annu Rev Genomics Hum Genet 2005 6 287-312 10.1146/ annurev.genom.6.080604.162309 16124863
-
(2005)
Annu Rev Genomics Hum Genet
, vol.6
, pp. 287-312
-
-
Crawford, D.C.1
Akey, D.T.2
Nickerson, D.A.3
-
12
-
-
15944414175
-
The Human Genome Diversity Project: Past, present and future
-
10.1038/nrg1596 15803201
-
Cavalli-Sforza LL The Human Genome Diversity Project: Past, present and future. Nat Rev Genet 2005 6 333-340 10.1038/nrg1596 15803201
-
(2005)
Nat Rev Genet
, vol.6
, pp. 333-340
-
-
Cavalli-Sforza, L.L.1
-
13
-
-
18044362481
-
Telomere induced senescence: End game signaling
-
10.2174/1566524053586563 15974867
-
Hezel AF Bardeesy N Maser RS Telomere induced senescence: End game signaling. Curr Mol Med 2005 5 145-152 10.2174/1566524053586563 15974867
-
(2005)
Curr Mol Med
, vol.5
, pp. 145-152
-
-
Hezel, A.F.1
Bardeesy, N.2
Maser, R.S.3
-
14
-
-
33749631593
-
Telomeres: Prognostic markers for solid tumors
-
10.1002/ijc.22120 16858685
-
Bisoffi M Heaphy CM Griffith JK Telomeres: Prognostic markers for solid tumors. Int J Cancer 2006 119 2255-2260 10.1002/ijc.22120 16858685
-
(2006)
Int J Cancer
, vol.119
, pp. 2255-2260
-
-
Bisoffi, M.1
Heaphy, C.M.2
Griffith, J.K.3
-
15
-
-
33747603204
-
Telomere content correlates with stage and prognosis in breast cancer
-
10.1007/s10549-006-9204-1 16752076
-
Fordyce CA Heaphy CM Bisoffi M Wyaco JL Joste NE Mangalik A Baumgartner KB Baumgartner RN Hunt WC Griffith JK Telomere content correlates with stage and prognosis in breast cancer. Breast Cancer Res Treat 2006 99 193-202 10.1007/s10549-006-9204-1 16752076
-
(2006)
Breast Cancer Res Treat
, vol.99
, pp. 193-202
-
-
Fordyce, C.A.1
Heaphy, C.M.2
Bisoffi, M.3
Wyaco, J.L.4
Joste, N.E.5
Mangalik, A.6
Baumgartner, K.B.7
Baumgartner, R.N.8
Hunt, W.C.9
Griffith, J.K.10
-
16
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
10.1038/ng1562 15895083
-
Tuzun E Sharp AJ Bailey JA Kaul R Morrison VA Pertz LM Haugen E Hayden H Albertson D Pinkel D et al. Fine-scale structural variation of the human genome. Nat Genet 2005 37 727-732 10.1038/ng1562 15895083
-
(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
-
17
-
-
29444441336
-
A high-resolution survey of deletion polymorphism in the human genome
-
10.1038/ng1697 16327808
-
Conrad DF Andrews TD Carter NP Hurles ME Pritchard JK A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 2006 38 75-81 10.1038/ng1697 16327808
-
(2006)
Nat Genet
, vol.38
, pp. 75-81
-
-
Conrad, D.F.1
Andrews, T.D.2
Carter, N.P.3
Hurles, M.E.4
Pritchard, J.K.5
-
18
-
-
29444450702
-
Common deletions and SNPs are in linkage disequilibrium in the human genome
-
10.1038/ng1695 16327809
-
Hinds DA Kloek AP Jen M Chen X Frazer KA Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat Genet 2006 38 82-85 10.1038/ng1695 16327809
-
(2006)
Nat Genet
, vol.38
, pp. 82-85
-
-
Hinds, D.A.1
Kloek, A.P.2
Jen, M.3
Chen, X.4
Frazer, K.A.5
-
19
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
10.1038/ng1696 16468122
-
McCarroll SA Hadnott TN Perry GH Sabeti PC Zody MC Barrett JC Dallaire S Gabriel SB Lee C Daly MJ et al. Common deletion polymorphisms in the human genome. Nat Genet 2006 38 86-92 10.1038/ng1696 16468122
-
(2006)
Nat Genet
, vol.38
, pp. 86-92
-
-
McCarroll, S.A.1
Hadnott, T.N.2
Perry, G.H.3
Sabeti, P.C.4
Zody, M.C.5
Barrett, J.C.6
Dallaire, S.7
Gabriel, S.B.8
Lee, C.9
Daly, M.J.10
-
20
-
-
1542515338
-
A census of human cancer genes
-
10.1038/nrc1299 14993899
-
Futreal PA Coin L Marshall M Down T Hubbard T Wooster R Rahman N Stratton MR A census of human cancer genes. Nat Rev Cancer 2004 4 177-183 10.1038/nrc1299 14993899
-
(2004)
Nat Rev Cancer
, vol.4
, pp. 177-183
-
-
Futreal, P.A.1
Coin, L.2
Marshall, M.3
Down, T.4
Hubbard, T.5
Wooster, R.6
Rahman, N.7
Stratton, M.R.8
-
21
-
-
33748644928
-
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
-
1559542 16909388 10.1086/507471
-
Friedman JM Baross A Delaney AD Ally A Arbour L Armstrong L Asano J Bailey DK Barber S Birch P Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 2006 79 500-513 1559542 16909388 10.1086/507471
-
(2006)
Am J Hum Genet
, vol.79
, pp. 500-513
-
-
Friedman, J.M.1
Baross, A.2
Delaney, A.D.3
Ally, A.4
Arbour, L.5
Armstrong, L.6
Asano, J.7
Bailey, D.K.8
Barber, S.9
Birch, P.10
-
22
-
-
10744233914
-
A tiling resolution DNA microarray with complete coverage of the human genome
-
10.1038/ng1307 14981516
-
Ishkanian AS Malloff CA Watson SK DeLeeuw RJ Chi B Coe BP Snijders A Albertson DG Pinkel D Marra MA A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 2004 36 299-303 10.1038/ ng1307 14981516
-
(2004)
Nat Genet
, vol.36
, pp. 299-303
-
-
Ishkanian, A.S.1
Malloff, C.A.2
Watson, S.K.3
DeLeeuw, R.J.4
Chi, B.5
Coe, B.P.6
Snijders, A.7
Albertson, D.G.8
Pinkel, D.9
Marra, M.A.10
-
23
-
-
3142698256
-
A set of BAC clones spanning the human genome
-
484185 15247347 10.1093/nar/gkh700
-
Krzywinski M Bosdet I Smailus D Chiu R Mathewson C Wye N Barber S Brown-John M Chan S Chand S A set of BAC clones spanning the human genome. Nucleic Acids Res 2004 32 3651-3660 484185 15247347 10.1093/nar/ gkh700
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 3651-3660
-
-
Krzywinski, M.1
Bosdet, I.2
Smailus, D.3
Chiu, R.4
Mathewson, C.5
Wye, N.6
Barber, S.7
Brown-John, M.8
Chan, S.9
Chand, S.10
-
24
-
-
33644653015
-
Decoding the fine-scale structure of a breast cancer genome and transcriptome
-
1415204 16461635 10.1101/gr.4247306
-
Volik S Raphael BJ Huang G Stratton MR Bignel G Murnane J Brebner JH Bajsarowicz K Paris PL Tao Q Decoding the fine-scale structure of a breast cancer genome and transcriptome. Genome Res 2006 16 394-404 1415204 16461635 10.1101/gr.4247306
-
(2006)
Genome Res
, vol.16
, pp. 394-404
-
-
Volik, S.1
Raphael, B.J.2
Huang, G.3
Stratton, M.R.4
Bignel, G.5
Murnane, J.6
Brebner, J.H.7
Bajsarowicz, K.8
Paris, P.L.9
Tao, Q.10
-
25
-
-
0037934515
-
End-sequence profiling: Sequence-based analysis of aberrant genomes
-
164650 12788976 10.1073/pnas.1232418100
-
Volik S Zhao S Chin K Brebner JH Herndon DR Tao Q Kowbel D Huang G Lapuk A Kuo WL End-sequence profiling: Sequence-based analysis of aberrant genomes. Proc Natl Acad Sci USA 2003 100 7696-7701 164650 12788976 10.1073/pnas.1232418100
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 7696-7701
-
-
Volik, S.1
Zhao, S.2
Chin, K.3
Brebner, J.H.4
Herndon, D.R.5
Tao, Q.6
Kowbel, D.7
Huang, G.8
Lapuk, A.9
Kuo, W.L.10
-
26
-
-
0037102417
-
A physical map of the mouse genome
-
Gregory SG Sekhon M Schein J Zhao S Osoegawa K Scott CE Evans RS Burridge PW Cox TV Fox CA et al. A physical map of the mouse genome. Nature 2002 418 743-750 10.1038/nature00957 12181558
-
(2002)
Nature
, vol.418
, pp. 743-750
-
-
Gregory, S.G.1
Sekhon, M.2
Schein, J.3
Zhao, S.4
Osoegawa, K.5
Scott, C.E.6
Evans, R.S.7
Burridge, P.W.8
Cox, T.V.9
Fox, C.A.10
-
27
-
-
1842717958
-
Integrated and sequence-ordered BAC- and YAC-based physical maps for the rat genome
-
383324 15060021 10.1101/gr.2336604
-
Krzywinski M Wallis J Gosele C Bosdet I Chiu R Graves T Hummel O Layman D Mathewson C Wye N et al. Integrated and sequence-ordered BAC- and YAC-based physical maps for the rat genome. Genome Res 2004 14 766-779 383324 15060021 10.1101/gr.2336604
-
(2004)
Genome Res
, vol.14
, pp. 766-779
-
-
Krzywinski, M.1
Wallis, J.2
Gosele, C.3
Bosdet, I.4
Chiu, R.5
Graves, T.6
Hummel, O.7
Layman, D.8
Mathewson, C.9
Wye, N.10
-
28
-
-
0036737858
-
Physical maps for genome analysis of serotype A and D strains of the fungal pathogen Cryptococcus neoformans
-
186652 12213782 10.1101/gr.81002
-
Schein JE Tangen KL Chiu R Shin H Lengeler KB MacDonald WK Bosdet I Heitman J Jones SJ Marra MA et al. Physical maps for genome analysis of serotype A and D strains of the fungal pathogen Cryptococcus neoformans. Genome Res 2002 12 1445-1453 186652 12213782 10.1101/gr.81002
-
(2002)
Genome Res
, vol.12
, pp. 1445-1453
-
-
Schein, J.E.1
Tangen, K.L.2
Chiu, R.3
Shin, H.4
Lengeler, K.B.5
MacDonald, W.K.6
Bosdet, I.7
Heitman, J.8
Jones, S.J.9
Marra, M.A.10
-
29
-
-
0035865087
-
A physical map of the human genome
-
10.1038/35057157 11237014
-
McPherson JD Marra M Hillier L Waterston RH Chinwalla A Wallis J Sekhon M Wylie K Mardis ER Wilson RK et al. A physical map of the human genome. Nature 2001 409 934-941 10.1038/35057157 11237014
-
(2001)
Nature
, vol.409
, pp. 934-941
-
-
McPherson, J.D.1
Marra, M.2
Hillier, L.3
Waterston, R.H.4
Chinwalla, A.5
Wallis, J.6
Sekhon, M.7
Wylie, K.8
Mardis, E.R.9
Wilson, R.K.10
-
30
-
-
0032587020
-
A map for sequence analysis of the Arabidopsis thaliana genome
-
10.1038/10327 10391214
-
Marra M Kucaba T Sekhon M Hillier L Martienssen R Chinwalla A Crockett J Fedele J Grover H Gund C et al. A map for sequence analysis of the Arabidopsis thaliana genome. Nat Genet 1999 22 265-270 10.1038/10327 10391214
-
(1999)
Nat Genet
, vol.22
, pp. 265-270
-
-
Marra, M.1
Kucaba, T.2
Sekhon, M.3
Hillier, L.4
Martienssen, R.5
Chinwalla, A.6
Crockett, J.7
Fedele, J.8
Grover, H.9
Gund, C.10
-
31
-
-
34347335667
-
Guilt beyond a reasonable doubt
-
10.1038/ng0707-813 17597768
-
Altshuler D Daly M Guilt beyond a reasonable doubt. Nat Genet 2007 39 813-815 10.1038/ng0707-813 17597768
-
(2007)
Nat Genet
, vol.39
, pp. 813-815
-
-
Altshuler, D.1
Daly, M.2
-
32
-
-
34347341846
-
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
-
10.1038/ng2068 17554260
-
Todd JA Walker NM Cooper JD Smyth DJ Downes K Plagnol V Bailey R Nejentsev S Field SF Payne F Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007 39 857-864 10.1038/ng2068 17554260
-
(2007)
Nat Genet
, vol.39
, pp. 857-864
-
-
Todd, J.A.1
Walker, N.M.2
Cooper, J.D.3
Smyth, D.J.4
Downes, K.5
Plagnol, V.6
Bailey, R.7
Nejentsev, S.8
Field, S.F.9
Payne, F.10
-
33
-
-
0014757386
-
A general method applicable to the search for similarities in the amino acid sequence of two proteins
-
10.1016/0022-2836(70)90057-4 5420325
-
Needleman SB Wunsch CD A general method applicable to the search for similarities in the amino acid sequence of two proteins. J Mol Biol 1970 48 443-453 10.1016/0022-2836(70)90057-4 5420325
-
(1970)
J Mol Biol
, vol.48
, pp. 443-453
-
-
Needleman, S.B.1
Wunsch, C.D.2
-
35
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
10547847
-
Rozen S Skaletsky H Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000 132 365-386 10547847
-
(2000)
Methods Mol Biol
, vol.132
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
36
-
-
0030920610
-
Sequence mapping by electronic PCR
-
310656 9149949
-
Schuler GD Sequence mapping by electronic PCR. Genome Res 1997 7 541-550 310656 9149949
-
(1997)
Genome Res
, vol.7
, pp. 541-550
-
-
Schuler, G.D.1
|