-
1
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
IHGSC
-
IHGSC. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001).
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
-
2
-
-
0035895505
-
The sequence of the human genome
-
Venter, J. C. et al. The sequence of the human genome. Science 291, 1304-1351 (2001).
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
-
3
-
-
0037464588
-
A vision for the future of genomics research
-
Collins, F. S., Green, E. D., Guttmacher, A. E. & Guyer, M. S. A vision for the future of genomics research. Nature 422, 835-847 (2003).
-
(2003)
Nature
, vol.422
, pp. 835-847
-
-
Collins, F.S.1
Green, E.D.2
Guttmacher, A.E.3
Guyer, M.S.4
-
4
-
-
79959524146
-
A haplotype map of the human genome
-
IHMC
-
IHMC. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
5
-
-
13844313862
-
Whole-genome patterns of common DNA variation in three human populations
-
Hinds, D. A. et al. Whole-genome patterns of common DNA variation in three human populations. Science 307, 1072-1079 (2005).
-
(2005)
Science
, vol.307
, pp. 1072-1079
-
-
Hinds, D.A.1
-
6
-
-
0036780750
-
Human diallelic insertion/deletion polymorphisms
-
Weber, J. L. et al. Human diallelic insertion/deletion polymorphisms. Am. J. Hum. Genet. 71, 854-862 (2002).
-
(2002)
Am. J. Hum. Genet
, vol.71
, pp. 854-862
-
-
Weber, J.L.1
-
7
-
-
12344307147
-
Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes
-
Bhangale, T. R., Rieder, M. J., Livingston, R. J. & Nickerson, D. A. Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum. Mol. Genet. 14, 59-69 (2005).
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 59-69
-
-
Bhangale, T.R.1
Rieder, M.J.2
Livingston, R.J.3
Nickerson, D.A.4
-
8
-
-
33748271469
-
An initial map of insertion and deletion (INDEL) variation in the human genome
-
Mills, R. E. et al. An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res. 16, 1182-1190 (2006).
-
(2006)
Genome Res
, vol.16
, pp. 1182-1190
-
-
Mills, R.E.1
-
9
-
-
31144469134
-
Structural variation in the human genome
-
Feuk, L., Carson, A. R. & Scherer, S. W. Structural variation in the human genome. Nature Rev. Genet. 7, 85-97 (2006).
-
(2006)
Nature Rev. Genet
, vol.7
, pp. 85-97
-
-
Feuk, L.1
Carson, A.R.2
Scherer, S.W.3
-
10
-
-
33746741125
-
Copy number variation: New insights in genome diversity
-
Freeman, J. L. et al. Copy number variation: new insights in genome diversity. Genome Res. 16, 949-961 (2006).
-
(2006)
Genome Res
, vol.16
, pp. 949-961
-
-
Freeman, J.L.1
-
11
-
-
33750368085
-
Structural variation of the human genome
-
Sharp, A. J., Cheng, Z. & Eichler, E. E. Structural variation of the human genome. Annu. Rev. Genom. Hum. Genet. 7, 407-442 (2006).
-
(2006)
Annu. Rev. Genom. Hum. Genet
, vol.7
, pp. 407-442
-
-
Sharp, A.J.1
Cheng, Z.2
Eichler, E.E.3
-
12
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate, A. J. et al. Detection of large-scale variation in the human genome. Nature Genet. 36, 949-951 (2004).
-
(2004)
Nature Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
-
13
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat, J. et al. Large-scale copy number polymorphism in the human genome. Science 305, 525-528 (2004).
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
-
14
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun, E. et al. Fine-scale structural variation of the human genome. Nature Genet. 37, 727-732 (2005).
-
(2005)
Nature Genet
, vol.37
, pp. 727-732
-
-
Tuzun, E.1
-
15
-
-
29444450702
-
Common deletions and SNPs are in linkage disequilibrium in the human genome
-
Hinds, D. A., Kloek, A. P., Jen, M., Chen, X. & Frazer, K. A. Common deletions and SNPs are in linkage disequilibrium in the human genome. Nature Genet. 38, 82-85 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 82-85
-
-
Hinds, D.A.1
Kloek, A.P.2
Jen, M.3
Chen, X.4
Frazer, K.A.5
-
16
-
-
29444441336
-
A high-resolution survey of deletion polymorphisms in the human genome
-
Conrad, D. F., Andrews, T. D., Carter, N. P., Hurles, M. E. & Pritchard, J. K. A high-resolution survey of deletion polymorphisms in the human genome. Nature Genet. 38, 75-81 (2006).
-
(2006)
Nature 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
-
17
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
McCarroll, S. A. et al. Common deletion polymorphisms in the human genome. Nature Genet. 38, 86-92 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 86-92
-
-
McCarroll, S.A.1
-
18
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444-454 (2006).
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
-
19
-
-
33751340401
-
Genome assembly comparison identifies structural variants in the human genome
-
Khaja, R. et al. Genome assembly comparison identifies structural variants in the human genome. Nature Genet. 38, 1413-1418 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 1413-1418
-
-
Khaja, R.1
-
21
-
-
0002341637
-
A series of cases of splenomegaly in children with anemia and peculiar bone changes
-
Cooley, T. B. & Lee, P. A series of cases of splenomegaly in children with anemia and peculiar bone changes. Trans. Am. Pediatr. Soc. 37, 29 (1925).
-
(1925)
Trans. Am. Pediatr. Soc
, vol.37
, pp. 29
-
-
Cooley, T.B.1
Lee, P.2
-
22
-
-
84942947912
-
Isoimmunization in pregnancy: Its possible bearing on the etiology of erythroblastosis foetalis
-
Levine, P., Katzin, E. M. & Burnham, L. Isoimmunization in pregnancy: its possible bearing on the etiology of erythroblastosis foetalis. J. Am. Med. Assoc. 116, 825-827 (1941).
-
(1941)
J. Am. Med. Assoc
, vol.116
, pp. 825-827
-
-
Levine, P.1
Katzin, E.M.2
Burnham, L.3
-
23
-
-
17644427673
-
The molecular basis of variation in human color vision
-
Deeb, S. S. The molecular basis of variation in human color vision. Clin. Genet. 67, 369-377 (2005).
-
(2005)
Clin. Genet
, vol.67
, pp. 369-377
-
-
Deeb, S.S.1
-
24
-
-
1442275829
-
The molecular basis of the Rh blood group phenotypes
-
Wagner, F. F. & Flegel, W. A. The molecular basis of the Rh blood group phenotypes. Immunohematol. 20, 23-36 (2004).
-
(2004)
Immunohematol
, vol.20
, pp. 23-36
-
-
Wagner, F.F.1
Flegel, W.A.2
-
25
-
-
0346125381
-
Thalassemia and abnormal hemoglobin
-
Fucharoen, S. & Winichagoon, P. Thalassemia and abnormal hemoglobin. Int. J. Hematol. 76 (Suppl. 2), 83-89 (2002).
-
(2002)
Int. J. Hematol
, vol.76
, Issue.SUPPL. 2
, pp. 83-89
-
-
Fucharoen, S.1
Winichagoon, P.2
-
26
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
Lupski, J. R. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14, 417-422 (1998).
-
(1998)
Trends Genet
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
27
-
-
0036468807
-
Genomic architecture, rearrangements and genomic disorders
-
Stankiewicz, P. & Lupski, J. R. Genomic architecture, rearrangements and genomic disorders. Trends Genet. 18, 74-82 (2002).
-
(2002)
Trends Genet
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
28
-
-
34547664096
-
Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
-
Lupski, J. R. & Stankiewicz, P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 1, e49 (2005).
-
(2005)
PLoS Genet
, vol.1
-
-
Lupski, J.R.1
Stankiewicz, P.2
-
29
-
-
0036957751
-
Transvection effects in Drosophila
-
Duncan, I. W. Transvection effects in Drosophila. Annu. Rev. Genet. 36, 521-556 (2002).
-
(2002)
Annu. Rev. Genet
, vol.36
, pp. 521-556
-
-
Duncan, I.W.1
-
30
-
-
32544455635
-
Large differences in testosterone excretion in Korean and Swedish men are strongly associated with a UDP-glucuronosyl transferase 2B17 polymorphism
-
Jakobsson, J. et al. Large differences in testosterone excretion in Korean and Swedish men are strongly associated with a UDP-glucuronosyl transferase 2B17 polymorphism. J. Clin. Endocrinol. Metab. 91, 687-693 (2006).
-
(2006)
J. Clin. Endocrinol. Metab
, vol.91
, pp. 687-693
-
-
Jakobsson, J.1
-
31
-
-
33748057111
-
Deletion polymorphism of UDP- glucuronosyltransferase 2B17 and risk of prostate cancer in African American and Caucasian men
-
Park, J. et al. Deletion polymorphism of UDP- glucuronosyltransferase 2B17 and risk of prostate cancer in African American and Caucasian men. Cancer Epidemiol. Biomarkers Prev. 15, 1473-1478 (2006).
-
(2006)
Cancer Epidemiol. Biomarkers Prev
, vol.15
, pp. 1473-1478
-
-
Park, J.1
-
32
-
-
20044377204
-
The Influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
Gonzalez, E. et al. The Influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307, 1434-1440 (2005).
-
(2005)
Science
, vol.307
, pp. 1434-1440
-
-
Gonzalez, E.1
-
33
-
-
33748558056
-
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
-
Fellermann, K. et al. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am. J. Hum. Genet. 79, 439-448 (2006).
-
(2006)
Am. J. Hum. Genet
, vol.79
, pp. 439-448
-
-
Fellermann, K.1
-
34
-
-
32844460938
-
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
-
Aitman, T. J. et al. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439, 851-855 (2006).
-
(2006)
Nature
, vol.439
, pp. 851-855
-
-
Aitman, T.J.1
-
35
-
-
0041386350
-
Polymorphically duplicated genes: Their relevance to phenotypic variation in humans
-
Buckland, P. R. Polymorphically duplicated genes: their relevance to phenotypic variation in humans. Ann. Med. 35, 308-315 (2003).
-
(2003)
Ann. Med
, vol.35
, pp. 308-315
-
-
Buckland, P.R.1
-
36
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski, J. R. et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219-232 (1991).
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
-
37
-
-
33746513094
-
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome
-
Locke, D. P. et al. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am. J. Hum. Genet. 79, 275-290 (2006).
-
(2006)
Am. J. Hum. Genet
, vol.79
, pp. 275-290
-
-
Locke, D.P.1
-
38
-
-
33344469939
-
Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays
-
Wirtenberger, M., Hemminki, K. & Burwinkel, B. Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays. Am. J. Hum. Genet. 78, 520-522 (2006).
-
(2006)
Am. J. Hum. Genet
, vol.78
, pp. 520-522
-
-
Wirtenberger, M.1
Hemminki, K.2
Burwinkel, B.3
-
39
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
Sharp, A. J. et al. Segmental duplications and copy-number variation in the human genome. Am. J. Hum. Genet. 77, 78-88 (2005).
-
(2005)
Am. J. Hum. Genet
, vol.77
, pp. 78-88
-
-
Sharp, A.J.1
-
40
-
-
0037967231
-
Abundant gene conversion between arms of massive palindromes in human and ape Y chromosomes
-
Rozen, S. et al. Abundant gene conversion between arms of massive palindromes in human and ape Y chromosomes. Nature 423, 873-876 (2003).
-
(2003)
Nature
, vol.423
, pp. 873-876
-
-
Rozen, S.1
-
41
-
-
33645418499
-
High mutation rates have driven extensive structural polymorphism among human Y chromosomes
-
Repping, S. et al. High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nature Genet. 38, 463-467 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 463-467
-
-
Repping, S.1
-
42
-
-
4644268484
-
The DNA sequence and comparative analysis of human chromosome 5
-
Schmutz, J. et al. The DNA sequence and comparative analysis of human chromosome 5. Nature 431, 268-274 (2004).
-
(2004)
Nature
, vol.431
, pp. 268-274
-
-
Schmutz, J.1
-
43
-
-
29444438167
-
Widening the spectrum of human genetic variation
-
Eichler, E. E. Widening the spectrum of human genetic variation. Nature Genet. 38, 9-11 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 9-11
-
-
Eichler, E.E.1
-
44
-
-
33750953227
-
Whole-genome re-sequencing
-
Bentley, D. R. Whole-genome re-sequencing. Curr. Opin. Genet. Dev. 16, 545-552 (2006).
-
(2006)
Curr. Opin. Genet. Dev
, vol.16
, pp. 545-552
-
-
Bentley, D.R.1
-
45
-
-
0027179248
-
Molecular definition of the extreme size polymorphism in apolipoprotein(a)
-
Lackner, C., Cohen, J. C. & Hobbs, H. H. Molecular definition of the extreme size polymorphism in apolipoprotein(a). Hum. Mol. Genet. 2, 933-940 (1993).
-
(1993)
Hum. Mol. Genet
, vol.2
, pp. 933-940
-
-
Lackner, C.1
Cohen, J.C.2
Hobbs, H.H.3
-
46
-
-
0033807421
-
Duplications and defects in the CYP2A6 gene: Identification, genotyping, and in vivo effects on smoking
-
Rao, Y. et al. Duplications and defects in the CYP2A6 gene: identification, genotyping, and in vivo effects on smoking. Mol. Pharmacol. 58, 747-755 (2000).
-
(2000)
Mol. Pharmacol
, vol.58
, pp. 747-755
-
-
Rao, Y.1
|