-
3
-
-
1842290346
-
506Q mutation is a common risk factor for venous thrombosis
-
506Q mutation is a common risk factor for venous thrombosis. Thromb. Haemost. 78, 483-488 (1997).
-
(1997)
Thromb. Haemost.
, vol.78
, pp. 483-488
-
-
Dahlbäck, B.1
-
4
-
-
0033624575
-
The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
-
Altshuler, D. et al. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genet. 26, 76-80 (2000).
-
(2000)
Nature Genet.
, vol.26
, pp. 76-80
-
-
Altshuler, D.1
-
5
-
-
0031595923
-
A Pro12Ala substitution in PPARγ2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity
-
Deeb, S. S. et al. A Pro12Ala substitution in PPARγ2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nature Genet. 20, 284-287 (1998).
-
(1998)
Nature Genet.
, vol.20
, pp. 284-287
-
-
Deeb, S.S.1
-
6
-
-
0242524453
-
The inherited basis of diabetes mellitus: Implications for the genetic analysis of complex traits
-
Florez, J. C., Hirschhorn, J. & Altshuler, D. The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annu. Rev. Genomics Hum. Genet. 4, 257-291 (2003).
-
(2003)
Annu. Rev. Genomics Hum. Genet.
, vol.4
, pp. 257-291
-
-
Florez, J.C.1
Hirschhorn, J.2
Altshuler, D.3
-
7
-
-
3242713277
-
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis
-
Begovich, A. B. et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am. J. Hum. Genet. 75, 330-337 (2004).
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 330-337
-
-
Begovich, A.B.1
-
8
-
-
12144291502
-
A functional variant of lymphoid tyrosine phosphatase is associated with type i diabetes
-
Bottini, N. et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nature Genet. 36, 337-338 (2004).
-
(2004)
Nature Genet.
, vol.36
, pp. 337-338
-
-
Bottini, N.1
-
9
-
-
0021343570
-
A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus
-
Bell, G. I., Horita, S. & Karam, J. H. A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33, 176-183 (1984).
-
(1984)
Diabetes
, vol.33
, pp. 176-183
-
-
Bell, G.I.1
Horita, S.2
Karam, J.H.3
-
10
-
-
0037648405
-
Assocation of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
-
Ueda, H. et al. Assocation of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423, 506-511 (2003).
-
(2003)
Nature
, vol.423
, pp. 506-511
-
-
Ueda, H.1
-
11
-
-
0035978533
-
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
-
Ogura, Y. et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411, 603-606 (2001).
-
(2001)
Nature
, vol.411
, pp. 603-606
-
-
Ogura, Y.1
-
12
-
-
0035978651
-
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
-
Hugot, J. P. et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411, 599-603 (2001).
-
(2001)
Nature
, vol.411
, pp. 599-603
-
-
Hugot, J.P.1
-
13
-
-
20244380171
-
Complement factor H polymorphism in age-related macular degeneration
-
Klein, R. J. et al. Complement factor H polymorphism in age-related macular degeneration. Science 308, 385-389 (2005).
-
(2005)
Science
, vol.308
, pp. 385-389
-
-
Klein, R.J.1
-
14
-
-
20244388812
-
Complement factor H variant increases the risk of agerelated macular degeneration
-
Haines, J. L. et al. Complement factor H variant increases the risk of agerelated macular degeneration. Science 308, 419-421 (2005).
-
(2005)
Science
, vol.308
, pp. 419-421
-
-
Haines, J.L.1
-
15
-
-
17244379811
-
Complement factor H polymorphism and age-related macular degeneration
-
Edwards, A. O. et al. Complement factor H polymorphism and age-related macular degeneration. Science 308, 421-424 (2005).
-
(2005)
Science
, vol.308
, pp. 421-424
-
-
Edwards, A.O.1
-
16
-
-
0028618372
-
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
-
Puffenberger, E. G. et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79, 1257-1266 (1994).
-
(1994)
Cell
, vol.79
, pp. 1257-1266
-
-
Puffenberger, E.G.1
-
17
-
-
17244383525
-
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
-
Emison, E. S. et al. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434, 857-863 (2005).
-
(2005)
Nature
, vol.434
, pp. 857-863
-
-
Emison, E.S.1
-
18
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem, B. et al. Identification of the cystic fibrosis gene: genetic analysis. Science 245, 1073-1080 (1989).
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
-
19
-
-
0026949420
-
Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
-
Hästbacka, J. et al. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet. 2, 204-211 (1992).
-
(1992)
Nature Genet.
, vol.2
, pp. 204-211
-
-
Hästbacka, J.1
-
20
-
-
0034977045
-
Linkage disequilibrium in humans: Models and data
-
Pritchard, J. K. & Przeworski, M. Linkage disequilibrium in humans: models and data. Am. J. Hum. Genet. 69, 1-14 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1-14
-
-
Pritchard, J.K.1
Przeworski, M.2
-
21
-
-
0033786787
-
Linkage disequilibrium and the search for complex disease genes
-
Jorde, L. B. Linkage disequilibrium and the search for complex disease genes. Genome Res. 10, 1435-1444 (2000).
-
(2000)
Genome Res.
, vol.10
, pp. 1435-1444
-
-
Jorde, L.B.1
-
22
-
-
0035837267
-
Linkage disequilibrium in the human genome
-
Reich, D. E. et al. Linkage disequilibrium in the human genome. Nature 411, 199-204 (2001).
-
(2001)
Nature
, vol.411
, pp. 199-204
-
-
Reich, D.E.1
-
23
-
-
0033039497
-
Prospects for whole-genome linkage disequilibrium mapping of common disease genes
-
Kruglyak, L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nature Genet. 22, 139-144 (1999).
-
(1999)
Nature Genet.
, vol.22
, pp. 139-144
-
-
Kruglyak, L.1
-
24
-
-
0034789532
-
Haplotype tagging for the identification of common disease genes
-
Johnson, G. C. et al. Haplotype tagging for the identification of common disease genes. Nature Genet. 29, 233-237 (2001).
-
(2001)
Nature Genet.
, vol.29
, pp. 233-237
-
-
Johnson, G.C.1
-
25
-
-
17344364213
-
DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
-
Nickerson, D. A. et al. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nature Genet. 19, 233-240 (1998).
-
(1998)
Nature Genet.
, vol.19
, pp. 233-240
-
-
Nickerson, D.A.1
-
26
-
-
0033764915
-
Localization of a small genomic region associated with elevated ACE
-
Zhu, X. et al. Localization of a small genomic region associated with elevated ACE. Am. J. Hum. Genet. 67, 1144-1153 (2000).
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1144-1153
-
-
Zhu, X.1
-
27
-
-
0034791035
-
Highresolution haplotype structure in the human genome
-
Daly, M. J., Rioux, J. D., Schaffner, S. F., Hudson, T. J. & Lander, E. S. Highresolution haplotype structure in the human genome. Nature Genet. 29, 229-232 (2001).
-
(2001)
Nature Genet.
, vol.29
, pp. 229-232
-
-
Daly, M.J.1
Rioux, J.D.2
Schaffner, S.F.3
Hudson, T.J.4
Lander, E.S.5
-
28
-
-
0034795550
-
Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
-
Jeffreys, A. J., Kauppi, L. & Neumann, R. Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nature Genet. 29, 217-222 (2001).
-
(2001)
Nature Genet.
, vol.29
, pp. 217-222
-
-
Jeffreys, A.J.1
Kauppi, L.2
Neumann, R.3
-
29
-
-
0035941029
-
Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21
-
Patil, N. et al. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294, 1719-1723 (2001).
-
(2001)
Science
, vol.294
, pp. 1719-1723
-
-
Patil, N.1
-
30
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel, S. B. et al. The structure of haplotype blocks in the human genome. Science 296, 2225-2229 (2002).
-
(2002)
Science
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
-
31
-
-
79959503826
-
The international hapmap project
-
The International HapMap Consortium
-
The International HapMap Consortium. The International HapMap Project. Nature 426, 789-796 (2003).
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
32
-
-
3142773390
-
Integrating ethics and science in the International HapMap Project
-
The International HapMap Consortium
-
The International HapMap Consortium. Integrating ethics and science in the International HapMap Project. Nature Rev. Genet. 5, 467-475 (2004).
-
(2004)
Nature Rev. Genet.
, vol.5
, pp. 467-475
-
-
-
33
-
-
7444260846
-
The ENCODE (ENCyclopedia of DNA elements) project
-
The ENCODE Project Consortium
-
The ENCODE Project Consortium. The ENCODE (ENCyclopedia Of DNA Elements) Project. Science 306, 636-640 (2004).
-
(2004)
Science
, vol.306
, pp. 636-640
-
-
-
34
-
-
18344366125
-
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups
-
Herrnstadt, C. et al. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am. J. Hum. Genet. 70, 1152-1171 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1152-1171
-
-
Herrnstadt, C.1
-
35
-
-
0042766533
-
The human y chromosome: An evolutionary marker comes of age
-
Jobling, M. A. & Tyler-Smith, C. The human Y chromosome: an evolutionary marker comes of age. Nature Rev. Genet. 4, 598-612 (2003).
-
(2003)
Nature Rev. Genet.
, vol.4
, pp. 598-612
-
-
Jobling, M.A.1
Tyler-Smith, C.2
-
36
-
-
0036178949
-
A nomenclature system for the tree of human Y-chromosomal binary haplogroups
-
The Y Chromosome Consortium
-
The Y Chromosome Consortium. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res. 12, 339-348 (2002).
-
(2002)
Genome Res.
, vol.12
, pp. 339-348
-
-
-
37
-
-
0034744362
-
The phylogeography of y chromosome binary haplotypes and the origins of modern human populations
-
Underhill, P. A. et al. The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann. Hum. Genet. 65, 43-62 (2001).
-
(2001)
Ann. Hum. Genet.
, vol.65
, pp. 43-62
-
-
Underhill, P.A.1
-
38
-
-
33344458848
-
A comparison of phasing algorithms for trios and unrelated individuals
-
in the press
-
Marchini, J. et al. A comparison of phasing algorithms for trios and unrelated individuals. Am. J. Hum. Genet, (in the press).
-
Am. J. Hum. Genet
-
-
Marchini, J.1
-
39
-
-
0242691208
-
A comparison of Bayesian methods for haplotype reconstruction from population genotype data
-
Stephens, M. & Donnelly, P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am. J. Hum. Genet. 73, 1162-1169 (2003).
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 1162-1169
-
-
Stephens, M.1
Donnelly, P.2
-
41
-
-
0037147189
-
Genetic structure of human populations
-
Rosenberg, N. A. et al. Genetic structure of human populations. Science 298, 2381-2385 (2002).
-
(2002)
Science
, vol.298
, pp. 2381-2385
-
-
Rosenberg, N.A.1
-
42
-
-
0347361674
-
Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data
-
Li, N. & Stephens, M. Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics 165, 2213-2233 (2003).
-
(2003)
Genetics
, vol.165
, pp. 2213-2233
-
-
Li, N.1
Stephens, M.2
-
43
-
-
79959548166
-
Reconciling estimates of linkage disequilibrium in the human genome
-
submitted
-
Pe'er, I. et al. Reconciling estimates of linkage disequilibrium in the human genome. Genome Res. (submitted).
-
Genome Res
-
-
Pe'Er, I.1
-
44
-
-
0029587470
-
Meiotic recombination hotspots
-
Lichten, M. & Goldman, A. S. Meiotic recombination hotspots. Annu. Rev. Genet. 29, 423-444(1995).
-
(1995)
Annu. Rev. Genet.
, vol.29
, pp. 423-444
-
-
Lichten, M.1
Goldman, A.S.2
-
45
-
-
1542563409
-
Initial sequencing and comparative analysis of the mouse genome
-
Mouse Genome Sequencing Consortium
-
Mouse Genome Sequencing Consortium. Initial sequencing and comparative analysis of the mouse genome. Nature 420, 520-562 (2002).
-
(2002)
Nature
, vol.420
, pp. 520-562
-
-
-
46
-
-
2142773942
-
The fine-scale structure of recombination rate variation in the human genome
-
McVean, G. A. et al. The fine-scale structure of recombination rate variation in the human genome. Science 304, 581-584 (2004).
-
(2004)
Science
, vol.304
, pp. 581-584
-
-
McVean, G.A.1
-
47
-
-
3042700117
-
Evidence for substantial fine-scale variation in recombination rates across the human genome
-
Crawford, D. C. et al. Evidence for substantial fine-scale variation in recombination rates across the human genome. Nature Genet. 36, 700-706 (2004).
-
(2004)
Nature Genet.
, vol.36
, pp. 700-706
-
-
Crawford, D.C.1
-
48
-
-
18544381909
-
A high-resolution recombination map of the human genome
-
Kong, A. et al. A high-resolution recombination map of the human genome. Nature Genet. 31, 241-247 (2002).
-
(2002)
Nature Genet.
, vol.31
, pp. 241-247
-
-
Kong, A.1
-
49
-
-
20144387806
-
Comparison of fine-scale recombination rates in humans and chimpanzees
-
Winckler, W. et al. Comparison of fine-scale recombination rates in humans and chimpanzees. Science 308, 107-111 (2005).
-
(2005)
Science
, vol.308
, pp. 107-111
-
-
Winckler, W.1
-
50
-
-
0037279717
-
Bounds on the minimum number of recombination events in a sample history
-
Myers, S. R. & Griffiths, R. C. Bounds on the minimum number of recombination events in a sample history. Genetics 163, 375-394 (2003).
-
(2003)
Genetics
, vol.163
, pp. 375-394
-
-
Myers, S.R.1
Griffiths, R.C.2
-
51
-
-
0022211482
-
Statistical properties of the number of recombination events in the history of a sample of DNA sequences
-
Hudson, R. R. & Kaplan, N. L. Statistical properties of the number of recombination events in the history of a sample of DNA sequences. Genetics 111, 147-164(1985).
-
(1985)
Genetics
, vol.111
, pp. 147-164
-
-
Hudson, R.R.1
Kaplan, N.L.2
-
52
-
-
0037370466
-
Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots
-
Phillips, M. S. et al. Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nature Genet. 33, 382-387 (2003).
-
(2003)
Nature Genet.
, vol.33
, pp. 382-387
-
-
Phillips, M.S.1
-
53
-
-
0344033602
-
Detecting disease associations due to linkage disequilibrium using haplotype tags: A class of tests and the determinants of statistical power
-
Chapman, J. M., Cooper, J. D., Todd, J. A. & Clayton, D. G. Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power. Hum. Hered. 56, 18-31 (2003).
-
(2003)
Hum. Hered.
, vol.56
, pp. 18-31
-
-
Chapman, J.M.1
Cooper, J.D.2
Todd, J.A.3
Clayton, D.G.4
-
54
-
-
0346373654
-
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium
-
Carlson, C. S. et al. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am. J. Hum. Genet. 74, 106-120 (2004).
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 106-120
-
-
Carlson, C.S.1
-
55
-
-
27644439141
-
Efficiency and power in genetic association studies
-
Advance online publication, 23 October doi: 10.1038/ ng1669
-
de Bakker, P. I. W. et al. Efficiency and power in genetic association studies. Nature Genet. Advance online publication, 23 October 2005 (doi: 10.1038/ ng1669).
-
(2005)
Nature Genet.
-
-
De Bakker, P.I.W.1
-
56
-
-
13144282294
-
Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies
-
Lin, S., Chakravarti, A. & Cutler, D. J. Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nature Genet. 36, 1181-1188 (2004).
-
(2004)
Nature Genet.
, vol.36
, pp. 1181-1188
-
-
Lin, S.1
Chakravarti, A.2
Cutler, D.J.3
-
57
-
-
0042387804
-
Selection and evaluation of tagging SNPs in the neuronalsodium-channel gene SCNIA: Implications for linkage-disequilibrium gene mapping
-
Weale, M. E. et al. Selection and evaluation of tagging SNPs in the neuronalsodium-channel gene SCNIA: implications for linkage-disequilibrium gene mapping. Am. J. Hum. Genet. 73, 551-565 (2003).
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 551-565
-
-
Weale, M.E.1
-
58
-
-
0043175289
-
Choosing haplotype-tagging SNPs based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study
-
Stram, D. O. et al. Choosing haplotype-tagging SNPs based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Hum. Hered. 55, 27-36 (2003).
-
(2003)
Hum. Hered.
, vol.55
, pp. 27-36
-
-
Stram, D.O.1
-
59
-
-
0032514681
-
Linkage disequilibrium mapping in isolated populations: The example of Finland revisited
-
de la Chapelle, A. & Wright, F. A. Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. Proc. Natl Acad. Sci. USA 95, 12416-12423 (1998).
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 12416-12423
-
-
De La Chapelle, A.1
Wright, F.A.2
-
60
-
-
0037458031
-
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
-
Mootha, V. K. et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc. Natl Acad. Sci. USA 100, 605-610 (2003).
-
(2003)
Proc. Natl Acad. Sci. USA
, vol.100
, pp. 605-610
-
-
Mootha, V.K.1
-
61
-
-
0343384355
-
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
-
Engert, J. C. et al. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nature Genet. 24, 120-125 (2000).
-
(2000)
Nature Genet.
, vol.24
, pp. 120-125
-
-
Engert, J.C.1
-
62
-
-
0033361944
-
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11
-
Richter, A. et al. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am. J. Hum. Genet. 64, 768-775 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 768-775
-
-
Richter, A.1
-
63
-
-
0024209791
-
Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci
-
Chakraborty, R. & Weiss, K. M. Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci. Proc. Natl Acad. Sci. USA 85, 9119-9123 (1988).
-
(1988)
Proc. Natl Acad. Sci. USA
, vol.85
, pp. 9119-9123
-
-
Chakraborty, R.1
Weiss, K.M.2
-
64
-
-
22944467804
-
Mapping by admixture linkage disequilibrium: Advances, limitations and guidelines
-
Smith, M. W. & O'Brien, S. J. Mapping by admixture linkage disequilibrium: advances, limitations and guidelines. Nature Rev. Genet. 6, 623-632 (2005).
-
(2005)
Nature Rev. Genet.
, vol.6
, pp. 623-632
-
-
Smith, M.W.1
O'Brien, S.J.2
-
65
-
-
2342597140
-
A high-density admixture map for disease gene discovery in African Americans
-
Smith, M. W. et al. A high-density admixture map for disease gene discovery in African Americans. Am. J. Hum. Genet. 74, 1001-1013 (2004).
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 1001-1013
-
-
Smith, M.W.1
-
66
-
-
13944250687
-
Admixture mapping for hypertension loci with genome-scan markers
-
Zhu, X. et al. Admixture mapping for hypertension loci with genome-scan markers. Nature Genet. 37, 177-181 (2005).
-
(2005)
Nature Genet.
, vol.37
, pp. 177-181
-
-
Zhu, X.1
-
67
-
-
2342453338
-
An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays
-
Zhao, X. et al. An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res. 64, 3060-3071 (2004).
-
(2004)
Cancer Res.
, vol.64
, pp. 3060-3071
-
-
Zhao, X.1
-
68
-
-
10844232112
-
Whole genome DNA copy number changes identified by high density oligonucleotide arrays
-
Huang, J. et al. Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Hum. Genomics 1, 287-299 (2004).
-
(2004)
Hum. Genomics
, vol.1
, pp. 287-299
-
-
Huang, J.1
-
69
-
-
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
-
70
-
-
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
-
71
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz, P. & Lupski, J. R. Genome 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
-
72
-
-
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
-
73
-
-
0242300619
-
α-Synuclein locus triplication causes Parkinson's disease
-
Singleton, A. B. et al. α-Synuclein locus triplication causes Parkinson's disease. Science 302, 841 (2003).
-
(2003)
Science
, vol.302
, pp. 841
-
-
Singleton, A.B.1
-
74
-
-
79959539278
-
Common deletion variants in the human genome
-
in the press
-
McCarroll, S. et al. Common deletion variants in the human genome. Nature Genet, (in the press).
-
Nature Genet
-
-
McCarroll, S.1
-
75
-
-
13944278863
-
A common inversion under selection in Europeans
-
Stefansson, H. et al. A common inversion under selection in Europeans. Nature Genet. 37, 129-137 (2005).
-
(2005)
Nature Genet.
, vol.37
, pp. 129-137
-
-
Stefansson, H.1
-
76
-
-
26844482093
-
A fine-scale map of recombination rates and recombination hotspots in the human genome
-
Myers, S., Bottolo, L., Freeman, C., McVean, G. & Donnelly, P. A fine-scale map of recombination rates and recombination hotspots in the human genome. Science 310, 321-324 (2005).
-
(2005)
Science
, vol.310
, pp. 321-324
-
-
Myers, S.1
Bottolo, L.2
Freeman, C.3
McVean, G.4
Donnelly, P.5
-
77
-
-
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
-
78
-
-
0035865094
-
Comparison of human genetic and sequence-based physical maps
-
Yu, A. et al. Comparison of human genetic and sequence-based physical maps. Nature 409, 951-953 (2001).
-
(2001)
Nature
, vol.409
, pp. 951-953
-
-
Yu, A.1
-
79
-
-
0032231877
-
Comprehensive human genetic maps: Individual and sex-specific variation in recombination
-
Broman, K. W., Murray, J. C., Sheffield, V. C., White, R. L & Weber, J. L Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63, 861-869 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 861-869
-
-
Broman, K.W.1
Murray, J.C.2
Sheffield, V.C.3
White, R.4
Weber, J.L.5
-
80
-
-
0026446099
-
A second-generation linkage map of the human genome
-
Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794-801 (1992).
-
(1992)
Nature
, vol.359
, pp. 794-801
-
-
Weissenbach, J.1
-
81
-
-
0034989085
-
Local rates of recombination are positively correlated with GC content in the human genome
-
Fullerton, S. M., Bernardo Carvalho, A. & Clark, A. G. Local rates of recombination are positively correlated with GC content in the human genome. Mol. Biol. Evol. 18, 1139-1142 (2001).
-
(2001)
Mol. Biol. Evol.
, vol.18
, pp. 1139-1142
-
-
Fullerton, S.M.1
Bernardo Carvalho, A.2
Clark, A.G.3
-
82
-
-
18444396271
-
A first-generation linkage disequilibrium map of human chromosome 22
-
Dawson, E. et al. A first-generation linkage disequilibrium map of human chromosome 22. Nature 418, 544-548 (2002).
-
(2002)
Nature
, vol.418
, pp. 544-548
-
-
Dawson, E.1
-
83
-
-
0026529344
-
Levels of naturally occurring DNA polymorphism correlate with recombination rates in D. melanogaster
-
Begun, D. J. & Aquadro, C. F. Levels of naturally occurring DNA polymorphism correlate with recombination rates in D. melanogaster. Nature 356, 519-520 (1992).
-
(1992)
Nature
, vol.356
, pp. 519-520
-
-
Begun, D.J.1
Aquadro, C.F.2
-
84
-
-
27544435335
-
Sequence features in regions of weak and strong linkage disequilibrium
-
Smith, A. V., Thomas, D. J., Munro, H. M. & Abecasis, G. R. Sequence features in regions of weak and strong linkage disequilibrium. Genome Res. 15, 1519-1534 (2005).
-
(2005)
Genome Res.
, vol.15
, pp. 1519-1534
-
-
Smith, A.V.1
Thomas, D.J.2
Munro, H.M.3
Abecasis, G.R.4
-
85
-
-
0034069495
-
Gene ontology: Tool for the unification of biology
-
The Gene Ontology Consortium
-
The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nature Genet. 25, 25-29 (2000).
-
(2000)
Nature Genet.
, vol.25
, pp. 25-29
-
-
-
86
-
-
0038379170
-
Advantage of rare HLA supertype in HIV disease progression
-
Trachtenberg, E. et al. Advantage of rare HLA supertype in HIV disease progression. Nature Med. 9, 928-935 (2003).
-
(2003)
Nature Med.
, vol.9
, pp. 928-935
-
-
Trachtenberg, E.1
-
87
-
-
0032526621
-
Evolutionary conservation of histone macroH2A subtypes and domains
-
Pehrson, J. R. & Fuji, R. N. Evolutionary conservation of histone macroH2A subtypes and domains. Nucleic Acids Res. 26, 2837-2842 (1998).
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 2837-2842
-
-
Pehrson, J.R.1
Fuji, R.N.2
-
88
-
-
0029943449
-
Mismatch repair in replication fidelity, genetic recombination, and cancer biology
-
Modrich, P. & Lahue, R. Mismatch repair in replication fidelity, genetic recombination, and cancer biology. Annu. Rev. Biochem. 65, 101-133 (1996).
-
(1996)
Annu. Rev. Biochem.
, vol.65
, pp. 101-133
-
-
Modrich, P.1
Lahue, R.2
-
89
-
-
15244363492
-
Human genomics: Disclosure of variation
-
Nielsen, R. Human genomics: disclosure of variation. Nature 434, 288-289 (2005).
-
(2005)
Nature
, vol.434
, pp. 288-289
-
-
Nielsen, R.1
-
90
-
-
0036479030
-
Identification of a variant associated with adult-type hypolactasia
-
Enattah, N. S. et al. Identification of a variant associated with adult-type hypolactasia. Nature Genet. 30, 233-237 (2002).
-
(2002)
Nature Genet.
, vol.30
, pp. 233-237
-
-
Enattah, N.S.1
-
91
-
-
2442677652
-
Genetic signatures of strong recent positive selection at the lactase gene
-
Bersaglieri, T. et al. Genetic signatures of strong recent positive selection at the lactase gene. Am. J. Hum. Genet. 74, 1111-1120 (2004).
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 1111-1120
-
-
Bersaglieri, T.1
-
92
-
-
0037167852
-
Detecting recent positive selection in the human genome from haplotype structure
-
Sabeti, P. C. et al. Detecting recent positive selection in the human genome from haplotype structure. Nature 419, 832-837 (2002).
-
(2002)
Nature
, vol.419
, pp. 832-837
-
-
Sabeti, P.C.1
-
93
-
-
18744395183
-
Numerous potentially functional but non-genic conserved sequences on human chromosome 21
-
Dermitzakis, E. T. et al. Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature 420, 578-582 (2002).
-
(2002)
Nature
, vol.420
, pp. 578-582
-
-
Dermitzakis, E.T.1
-
94
-
-
10744222156
-
Identification and characterization of multi-species conserved sequences
-
Margulies, E. H., Blanchette, M., Haussler, D. & Green, E. D. Identification and characterization of multi-species conserved sequences. Genome Res. 13, 2507-2518 (2003).
-
(2003)
Genome Res.
, vol.13
, pp. 2507-2518
-
-
Margulies, E.H.1
Blanchette, M.2
Haussler, D.3
Green, E.D.4
-
95
-
-
22844448777
-
Priorities and standards in pharmacogenetic research
-
Need, A. C., Motulsky, A. G. & Goldstein, D. B. Priorities and standards in pharmacogenetic research. Nature Genet. 37, 671-681 (2005).
-
(2005)
Nature Genet.
, vol.37
, pp. 671-681
-
-
Need, A.C.1
Motulsky, A.G.2
Goldstein, D.B.3
-
96
-
-
23644434284
-
Genetic interactions between polymorphisms that affect gene expression in yeast
-
Brem, R. B., Storey, J. D., Whittle, J. & Kruglyak, L. Genetic interactions between polymorphisms that affect gene expression in yeast. Nature 436, 701-703 (2005).
-
(2005)
Nature
, vol.436
, pp. 701-703
-
-
Brem, R.B.1
Storey, J.D.2
Whittle, J.3
Kruglyak, L.4
-
97
-
-
10744231402
-
Whole-genome shotgun assembly and comparison of human genome assemblies
-
Istrail, S. et al. Whole-genome shotgun assembly and comparison of human genome assemblies. Proc. Natl Acad. Sci. USA 101, 1916-1921 (2004).
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 1916-1921
-
-
Istrail, S.1
-
98
-
-
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
-
99
-
-
24344500211
-
Initial sequence of the chimpanzee genome and comparison with the human genome
-
The Chimpanzee Sequencing and Analysis Consortium
-
The Chimpanzee Sequencing and Analysis Consortium. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437, 69-87 (2005).
-
(2005)
Nature
, vol.437
, pp. 69-87
-
-
-
100
-
-
20844455582
-
Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays
-
Matsuzaki, H. et al. Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nature Methods 1, 109-111 (2004).
-
(2004)
Nature Methods
, vol.1
, pp. 109-111
-
-
Matsuzaki, H.1
-
101
-
-
0037047628
-
Recent segmental duplications in the human genome
-
Bailey, J. A. et al. Recent segmental duplications in the human genome. Science 297, 1003-1007(2002).
-
(2002)
Science
, vol.297
, pp. 1003-1007
-
-
Bailey, J.A.1
-
102
-
-
17644379063
-
A note on exact tests of HardyWeinberg equilibrium
-
Wigginton, J. E., Cutler, D. J. & Abecasis, G. R. A note on exact tests of HardyWeinberg equilibrium. Am. J. Hum. Genet. 76, 887-893 (2005).
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 887-893
-
-
Wigginton, J.E.1
Cutler, D.J.2
Abecasis, G.R.3
-
103
-
-
0028298036
-
Maximum-likelihood estimation of gene location by linkage disequilibrium
-
Hill, W. G. & Weir, B. S. Maximum-likelihood estimation of gene location by linkage disequilibrium. Am. J. Hum. Genet. 54, 705-714 (1994).
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 705-714
-
-
Hill, W.G.1
Weir, B.S.2
|