-
1
-
-
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
-
-
-
2
-
-
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
-
-
-
3
-
-
79959524146
-
A haplotype map of the human genome
-
The International HapMap Consortium
-
The International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
4
-
-
34250019387
-
Genomics: Guilt by association
-
Bowcock, A. M. Genomics: guilt by association. Nature 447, 645-646 (2007).
-
(2007)
Nature
, vol.447
, pp. 645-646
-
-
Bowcock, A.M.1
-
5
-
-
34347335667
-
Guilt beyond a reasonable doubt
-
Altshuler, D. & Daly, M. Guilt beyond a reasonable doubt. Nature Genet. 39, 813-815 (2007).
-
(2007)
Nature Genet
, vol.39
, pp. 813-815
-
-
Altshuler, D.1
Daly, M.2
-
6
-
-
26844482093
-
A fine-scale map of recombination rates and hotspots across the human genome
-
Myers, S., Bottolo, L., Freeman, C., McVean, G. & Donnelly, P. A fine-scale map of recombination rates and hotspots across 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
-
7
-
-
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
-
8
-
-
29444441336
-
A high-resolution survey of deletion polymorphism 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 polymorphism 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
-
9
-
-
33644981509
-
A map of recent positive selection in the human genome
-
Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in the human genome. PLoS Biol. 4, e72 (2006).
-
(2006)
PLoS Biol
, vol.4
-
-
Voight, B.F.1
Kudaravalli, S.2
Wen, X.3
Pritchard, J.K.4
-
10
-
-
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
-
11
-
-
33749137515
-
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC
-
de Bakker, P. I. et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nature Genet. 38, 1166-1172 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 1166-1172
-
-
de Bakker, P.I.1
-
12
-
-
29644446630
-
Mapping common regulatory variants to human haplotypes
-
Pastinen, T. et al. Mapping common regulatory variants to human haplotypes. Hum. Mol. Genet. 14, 3963-3971 (2005).
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 3963-3971
-
-
Pastinen, T.1
-
13
-
-
55449112185
-
Genome-wide associations of gene expression variation in humans
-
Stranger, B. E. et al. Genome-wide associations of gene expression variation in humans. PLoS Genet. 1, e78 (2005).
-
(2005)
PLoS Genet
, vol.1
-
-
Stranger, B.E.1
-
14
-
-
27644482314
-
Mapping determinants of human gene expression by regional and genome-wide association
-
Cheung, V. G. et al. Mapping determinants of human gene expression by regional and genome-wide association. Nature 437, 1365-1369 (2005).
-
(2005)
Nature
, vol.437
, pp. 1365-1369
-
-
Cheung, V.G.1
-
15
-
-
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
-
16
-
-
27644439141
-
Efficiency and power in genetic association studies
-
de Bakker, P. I. et al. Efficiency and power in genetic association studies. Nature Genet. 37, 1217-1223 (2005).
-
(2005)
Nature Genet
, vol.37
, pp. 1217-1223
-
-
de Bakker, P.I.1
-
17
-
-
33745279392
-
Evaluating and improving power in whole-genome association studies using fixed marker sets
-
Pe'er, I. et al. Evaluating and improving power in whole-genome association studies using fixed marker sets. Nature Genet. 38, 663-667 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 663-667
-
-
Pe'er, I.1
-
18
-
-
33745279056
-
Evaluating coverage of genome-wide association studies
-
Barrett, J. C. & Cardon, L. R. Evaluating coverage of genome-wide association studies. Nature Genet. 38, 659-662 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 659-662
-
-
Barrett, J.C.1
Cardon, L.R.2
-
19
-
-
33748317890
-
In silico method for inferring genotypes in pedigrees
-
Burdick, J. T., Chen, W. M., Abecasis, G. R. & Cheung, V. G. In silico method for inferring genotypes in pedigrees. Nature Genet. 38, 1002-1004 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 1002-1004
-
-
Burdick, J.T.1
Chen, W.M.2
Abecasis, G.R.3
Cheung, V.G.4
-
20
-
-
34547622688
-
Imputation-based analysis of association studies: Candidate regions and quantitative traits
-
Servin, B. R. & Stephens, M. Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet. 3, e114 (2007).
-
(2007)
PLoS Genet
, vol.3
-
-
Servin, B.R.1
Stephens, M.2
-
21
-
-
84969213492
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
-
The Wellcome Trust Case Control Consortium
-
The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661-668 (2007).
-
(2007)
Nature
, vol.447
, pp. 661-668
-
-
-
22
-
-
34249885875
-
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
-
Scott, L. J. et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316, 1341-1345 (2007).
-
(2007)
Science
, vol.316
, pp. 1341-1345
-
-
Scott, L.J.1
-
23
-
-
34347344976
-
A new multipoint method for genome-wide association studies via imputation of genotypes
-
Marchini, J., Howie, B., Myers, S., McVean, G. & Donnelly, P. A new multipoint method for genome-wide association studies via imputation of genotypes. Nature Genet. 39, 906-913 (2007).
-
(2007)
Nature Genet
, vol.39
, pp. 906-913
-
-
Marchini, J.1
Howie, B.2
Myers, S.3
McVean, G.4
Donnelly, P.5
-
24
-
-
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
-
25
-
-
0037461782
-
The mosaic that is our genome
-
Paabo, S. The mosaic that is our genome. Nature 421, 409-412 (2003).
-
(2003)
Nature
, vol.421
, pp. 409-412
-
-
Paabo, S.1
-
26
-
-
32944481700
-
Perspectives on human genetic variation from the HapMap Project
-
McVean, G., Spencer, C. C. & Chaix, R. Perspectives on human genetic variation from the HapMap Project. PLoS Genet. 1, e54 (2005).
-
(2005)
PLoS Genet
, vol.1
-
-
McVean, G.1
Spencer, C.C.2
Chaix, R.3
-
27
-
-
34548292504
-
PLINK: A toolset for whole-genome association and population-based linkage analysis
-
Purcell, S. et al. PLINK: a toolset for whole-genome association and population-based linkage analysis. Am. J. Hum. Genet. 81, 559-575 (2007).
-
(2007)
Am. J. Hum. Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
-
28
-
-
0033358583
-
Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain
-
Broman, K. W. & Weber, J. L. Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain. Am. J. Hum. Genet. 65, 1493-1500 (1999).
-
(1999)
Am. J. Hum. Genet
, vol.65
, pp. 1493-1500
-
-
Broman, K.W.1
Weber, J.L.2
-
29
-
-
33144460067
-
Extended tracts of homozygosity in outbred human populations
-
Gibson, J., Morton, N. E. & Collins, A. Extended tracts of homozygosity in outbred human populations. Hum. Mol. Genet. 15, 789-795 (2006).
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 789-795
-
-
Gibson, J.1
Morton, N.E.2
Collins, A.3
-
30
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander, E. S. & Botstein, D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570 (1987).
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
31
-
-
33745231382
-
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: Application to Taybi-Linder syndrome
-
Leutenegger, A. L. et al. Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. Am. J. Hum. Genet. 79, 62-66 (2006).
-
(2006)
Am. J. Hum. Genet
, vol.79
, pp. 62-66
-
-
Leutenegger, A.L.1
-
32
-
-
0028828135
-
Perspectives of identity by descent (IBD) mapping in founder populations
-
Te Meerman, G. J., Van der Meulen, M. A. & Sandkuijl, L. A. Perspectives of identity by descent (IBD) mapping in founder populations. Clin. Exp. Allergy 25 (Suppl 2), 97-102 (1995).
-
(1995)
Clin. Exp. Allergy
, vol.25
, Issue.SUPPL. 2
, pp. 97-102
-
-
Te Meerman, G.J.1
Van der Meulen, M.A.2
Sandkuijl, L.A.3
-
33
-
-
0027942323
-
Genome screening by searching for shared segments: Mapping a gene for benign recurrent intrahepatic cholestasis
-
Houwen, R. H. et al. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nature Genet. 8, 380-386 (1994).
-
(1994)
Nature Genet
, vol.8
, pp. 380-386
-
-
Houwen, R.H.1
-
34
-
-
0030826275
-
Genome scanning for segments shared identical by descent among distant relatives in isolated populations
-
Durham, L. K. & Feingold, E. Genome scanning for segments shared identical by descent among distant relatives in isolated populations. Am. J. Hum. Genet. 61, 830-842 (1997).
-
(1997)
Am. J. Hum. Genet
, vol.61
, pp. 830-842
-
-
Durham, L.K.1
Feingold, E.2
-
35
-
-
0842310835
-
Intense and highly localized gene conversion activity in human meiotic crossover hot spots
-
Jeffreys, A. J. & May, C. A. Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Nature Genet. 36, 151-156 (2004).
-
(2004)
Nature Genet
, vol.36
, pp. 151-156
-
-
Jeffreys, A.J.1
May, C.A.2
-
36
-
-
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
-
37
-
-
33747189181
-
The distribution and causes of meiotic recombination in the human genome
-
Myers, S. et al. The distribution and causes of meiotic recombination in the human genome. Biochem. Soc. Trans. 34, 526-530 (2006).
-
(2006)
Biochem. Soc. Trans
, vol.34
, pp. 526-530
-
-
Myers, S.1
-
38
-
-
33749416027
-
The influence of recombination on human genetic diversity
-
Spencer, C. C. et al. The influence of recombination on human genetic diversity. PLoS Genet. 2, e148 (2006).
-
(2006)
PLoS Genet
, vol.2
-
-
Spencer, C.C.1
-
39
-
-
0035345013
-
Meiotic recombination hot spots and cold spots
-
Petes, T. D. Meiotic recombination hot spots and cold spots. Nature Rev. Genet. 2, 360-369 (2001).
-
(2001)
Nature Rev. Genet
, vol.2
, pp. 360-369
-
-
Petes, T.D.1
-
40
-
-
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
-
41
-
-
0141742293
-
PANTHER: A library of protein families and subfamilies indexed by function
-
Thomas, P. D. et al. PANTHER: a library of protein families and subfamilies indexed by function. Genome Res. 13, 2129-2141 (2003).
-
(2003)
Genome Res
, vol.13
, pp. 2129-2141
-
-
Thomas, P.D.1
-
42
-
-
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
-
43
-
-
16844377748
-
Fine-scale recombination patterns differ between chimpanzees and humans
-
Ptak, S. E. et al. Fine-scale recombination patterns differ between chimpanzees and humans. Nature Genet. 37, 429-434 (2005).
-
(2005)
Nature Genet
, vol.37
, pp. 429-434
-
-
Ptak, S.E.1
-
44
-
-
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
-
45
-
-
35349012592
-
Genome-wide detection and characterization of positive selection in human populations
-
doi:10.1038/nature06250 this issue
-
Sabeti, P. C. et al. Genome-wide detection and characterization of positive selection in human populations. Nature doi:10.1038/nature06250 (this issue).
-
Nature
-
-
Sabeti, P.C.1
-
46
-
-
27144539145
-
Natural selection on protein-coding genes in the human genome
-
Bustamante, C. D. et al. Natural selection on protein-coding genes in the human genome. Nature 437, 1153-1157 (2005).
-
(2005)
Nature
, vol.437
, pp. 1153-1157
-
-
Bustamante, C.D.1
-
47
-
-
0032991552
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
Cargill, M. et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet. 22, 231-238 (1999).
-
(1999)
Nature Genet
, vol.22
, pp. 231-238
-
-
Cargill, M.1
-
48
-
-
0036911353
-
Interrogating a high-density SNP map for signatures of natural selection
-
Akey, J. M., Zhang, G., Zhang, K., Jin, L. & Shriver, M. D. Interrogating a high-density SNP map for signatures of natural selection. Genome Res. 12, 1805-1814 (2002).
-
(2002)
Genome Res
, vol.12
, pp. 1805-1814
-
-
Akey, J.M.1
Zhang, G.2
Zhang, K.3
Jin, L.4
Shriver, M.D.5
-
49
-
-
33745121154
-
Positive natural selection in the human lineage
-
Sabeti, P. C. et al. Positive natural selection in the human lineage. Science 312, 1614-1620 (2006).
-
(2006)
Science
, vol.312
, pp. 1614-1620
-
-
Sabeti, P.C.1
-
50
-
-
33750471977
-
Transferability of tag SNPs in genetic association studies in multiple populations
-
de Bakker, P. I. et al. Transferability of tag SNPs in genetic association studies in multiple populations. Nature Genet. 38, 1298-1303 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 1298-1303
-
-
de Bakker, P.I.1
-
51
-
-
33750444621
-
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
-
Conrad, D. F. et al. A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nature Genet. 38, 1251-1260 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 1251-1260
-
-
Conrad, D.F.1
-
52
-
-
33947699333
-
-
Service, S., Sabatti, C. & Freimer, N. Tag SNPs chosen from HapMap perform well in several population isolates. Genet. Epidemiol. 31, 189-194 (2007).
-
Service, S., Sabatti, C. & Freimer, N. Tag SNPs chosen from HapMap perform well in several population isolates. Genet. Epidemiol. 31, 189-194 (2007).
-
-
-
-
53
-
-
32244432359
-
Comparative study of the linkage disequilibrium of an ENCODE region, chromosome 7p15, in Korean, Japanese, and Han Chinese samples
-
Lim, J. et al. Comparative study of the linkage disequilibrium of an ENCODE region, chromosome 7p15, in Korean, Japanese, and Han Chinese samples. Genomics 87, 392-398 (2006).
-
(2006)
Genomics
, vol.87
, pp. 392-398
-
-
Lim, J.1
-
54
-
-
30344454706
-
A genotype calling algorithm for affymetrix SNP arrays
-
Rabbee, N. & Speed, T. P. A genotype calling algorithm for affymetrix SNP arrays. Bioinformatics 22, 7-12 (2006).
-
(2006)
Bioinformatics
, vol.22
, pp. 7-12
-
-
Rabbee, N.1
Speed, T.P.2
-
55
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007).
-
(2007)
Am. J. Hum. Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
-
56
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
Price, A. L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nature Genet. 38, 904-909 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 904-909
-
-
Price, A.L.1
-
57
-
-
0032403420
-
Recombination breakpoints in the human β-globin gene cluster
-
Smith, R. A., Ho, P. J., Clegg, J. B., Kidd, J. R. & Thein, S. L. Recombination breakpoints in the human β-globin gene cluster. Blood 92, 4415-4421 (1998).
-
(1998)
Blood
, vol.92
, pp. 4415-4421
-
-
Smith, R.A.1
Ho, P.J.2
Clegg, J.B.3
Kidd, J.R.4
Thein, S.L.5
-
58
-
-
33645127519
-
Allelic recombination and de novo deletions in sperm in the human β-globin gene region
-
Holloway, K., Lawson, V. E. & Jeffreys, A. J. Allelic recombination and de novo deletions in sperm in the human β-globin gene region. Hum. Mol. Genet. 15, 1099-1111 (2006).
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 1099-1111
-
-
Holloway, K.1
Lawson, V.E.2
Jeffreys, A.J.3
-
59
-
-
0021566877
-
Estimating F-statistics for the analysis of population structure
-
Weir, B. S. & Cockerham, C. C. Estimating F-statistics for the analysis of population structure. Evolution 38, 1358-1370 (1984).
-
(1984)
Evolution
, vol.38
, pp. 1358-1370
-
-
Weir, B.S.1
Cockerham, C.C.2
|