-
1
-
-
0037442235
-
Genetic associations in large versus small studies: An empirical assessment
-
Ioannidis, J. P., Trikalinos, T. A., Ntzani, E. E. & Contopoulosloannidis, D. G. Genetic associations in large versus small studies: an empirical assessment. Lancet 361, 567-571 (2003).
-
(2003)
Lancet
, vol.361
, pp. 567-571
-
-
Ioannidis, J.P.1
Trikalinos, T.A.2
Ntzani, E.E.3
Contopoulosloannidis, D.G.4
-
2
-
-
0037312921
-
Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease
-
Lohmueller, K. E., Pearce, C. L., Pike, M., Lander, E. S. & Hirschhorn, J. N. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nature Genet. 33, 177-182 (2003).
-
(2003)
Nature Genet.
, vol.33
, pp. 177-182
-
-
Lohmueller, K.E.1
Pearce, C.L.2
Pike, M.3
Lander, E.S.4
Hirschhorn, J.N.5
-
3
-
-
13144306071
-
Genome-wide association studies for common diseases and complex traits
-
Hirschhorn, J. N. & Daly, M. J. Genome-wide association studies for common diseases and complex traits. Nature Rev. Genet. 6, 95-108 (2005). A review of the issues that are involved in the design of large-scale association mapping, including marker selection and sources of false-positive and false-negative results.
-
(2005)
Nature Rev. Genet.
, vol.6
, pp. 95-108
-
-
Hirschhorn, J.N.1
Daly, M.J.2
-
4
-
-
0029286310
-
Towards fully automated genome-wide polymorphism screening
-
Livak, K. J., Marmaro, J. & Todd, J. A. Towards fully automated genome-wide polymorphism screening. Nature Genet 9, 341-342 (1995).
-
(1995)
Nature Genet.
, vol.9
, pp. 341-342
-
-
Livak, K.J.1
Marmaro, J.2
Todd, J.A.3
-
5
-
-
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
-
6
-
-
0035654137
-
Accessing genetic variation: Gene-typing single nucleotide polymorphisms
-
Syvanen, A. C. Accessing genetic variation: gene-typing single nucleotide polymorphisms. Nature Rev. Genet. 2, 930-942 (2001).
-
(2001)
Nature Rev. Genet.
, vol.2
, pp. 930-942
-
-
Syvanen, A.C.1
-
7
-
-
0037396691
-
Efficient high-throughput resequencing of genomic DNA
-
Miller, R. D., Duan, S., Lovins, E. G., Kloss, E. F. & Kwok, P. Y. Efficient high-throughput resequencing of genomic DNA. Genome Res. 13, 717-720 (2003).
-
(2003)
Genome Res.
, vol.13
, pp. 717-720
-
-
Miller, R.D.1
Duan, S.2
Lovins, E.G.3
Kloss, E.F.4
Kwok, P.Y.5
-
8
-
-
0037685262
-
Multiplexed gene-typing with sequence-tagged molecular inversion probes
-
Hardenbol, P. et al. Multiplexed gene-typing with sequence-tagged molecular inversion probes. Nature Biotechnol. 21, 673-678 (2003).
-
(2003)
Nature Biotechnol.
, vol.21
, pp. 673-678
-
-
Hardenbol, P.1
-
9
-
-
2542498792
-
Localization and identification of human quantitative trait loci: King Harvest has surely come
-
Blangero, J. Localization and identification of human quantitative trait loci: King Harvest has surely come. Curr. Opin. Genet. Dev. 14, 233-240 (2004).
-
(2004)
Curr. Opin. Genet. Dev.
, vol.14
, pp. 233-240
-
-
Blangero, J.1
-
10
-
-
0242660361
-
Confounding, ascertainment bias, and the blind quest for a genetic 'fountain of youth'
-
Terwilliger, J. D. & Weiss, K. M. Confounding, ascertainment bias, and the blind quest for a genetic 'fountain of youth'. Ann. Med. 35, 532-544 (2003).
-
(2003)
Ann. Med.
, vol.35
, pp. 532-544
-
-
Terwilliger, J.D.1
Weiss, K.M.2
-
11
-
-
0037224762
-
Association mapping of complex diseases in linked regions: Estimation of genetic effects and feasibility of testing rare variants
-
Wang, W. Y., Cordell, H. J. & Todd, J. A. Association mapping of complex diseases in linked regions: estimation of genetic effects and feasibility of testing rare variants. Genet. Epidemiol. 24, 36-43 (2003).
-
(2003)
Genet. Epidemiol.
, vol.24
, pp. 36-43
-
-
Wang, W.Y.1
Cordell, H.J.2
Todd, J.A.3
-
12
-
-
1242314858
-
Neuregulin 1 and schizophrenia
-
Stefansson, H., Steinthorsdottir, V., Thorgeirsson, T. E., Guloher, J. R. & Stefansson, K. Neuregulin 1 and schizophrenia. Ann. Med. 36, 62-71 (2004).
-
(2004)
Ann. Med.
, vol.36
, pp. 62-71
-
-
Stefansson, H.1
Steinthorsdottir, V.2
Thorgeirsson, T.E.3
Guloher, J.R.4
Stefansson, K.5
-
13
-
-
0034758045
-
Genomewide scans of complex human diseases: True linkage is hard to find
-
Altmuller, J., Palmer, L. J., Fischer, G., Scherb, H. & Wjst, M. Genomewide scans of complex human diseases: true linkage is hard to find. Am. J. Hum. Genet. 69, 936-950 (2001). This is an analyses of 101 linkage studies. It demonstrates the difficulties in achieving significant linkage, and argues for a need for larger sample sizes.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 936-950
-
-
Altmuller, J.1
Palmer, L.J.2
Fischer, G.3
Scherb, H.4
Wjst, M.5
-
14
-
-
4143134235
-
The future of association studies: Gene-based analysis and reolication
-
Neale, B. M. & Sham, P. C. The future of association studies: gene-based analysis and reolication. Am. J. Hum. Genet. 75, 353-362 (2004). A review of the design of association-mapping strategies. It argues for changing the focus from SNPs to genomic regions, and outlines strategies to achieve this.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 353-362
-
-
Neale, B.M.1
Sham, P.C.2
-
15
-
-
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
-
16
-
-
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
-
17
-
-
79959503826
-
-
The International HapMap Project
-
International HapMap Consortium. The International HapMap Project. Nature 426, 789-796 (2003). This paper outlines the International HapMap Project, which is currently in progress, and will provide SNP maps, LD information and tag SNPs throughout the genome for different human populations.
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
18
-
-
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
-
19
-
-
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). The authors introduce the concept of tag SNPs based on LD to minimize laboratory effort for SNP genotyping in association analyses.
-
(2001)
Nature Genet.
, vol.29
, pp. 233-237
-
-
Johnson, G.C.1
-
20
-
-
0035451780
-
On the allelic spectrum of human disease
-
Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Trends Genet 17, 502-510 (2001).
-
(2001)
Trends Genet.
, vol.17
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
21
-
-
0036799545
-
The allelic architecture of human disease genes: Common disease-common variant...or not?
-
Pritchard, J. K. & Cox, N. J. The allelic architecture of human disease genes: common disease-common variant...or not? Hum. Mol. Genet. 11, 2417-2423 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2417-2423
-
-
Pritchard, J.K.1
Cox, N.J.2
-
22
-
-
0029741063
-
The future of genetic studies of complex human diseases
-
Risch, N. & Merikangas, K. The future of genetic studies of complex human diseases. Science 273, 1516-1517 (1996). This paper showed in explicit terms the greater power of whole-genome association studies over affected sib-pair linkage for the mapping of common diseases.
-
(1996)
Science
, vol.273
, pp. 1516-1517
-
-
Risch, N.1
Merikangas, K.2
-
23
-
-
18544380387
-
Parameters for reliable results in genetic association studies in common disease
-
Dahlman, I. et al. Parameters for reliable results in genetic association studies in common disease. Nature Genet. 30, 149-150 (2002).
-
(2002)
Nature Genet.
, vol.30
, pp. 149-150
-
-
Dahlman, I.1
-
24
-
-
6944252244
-
The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology
-
Freimer, N. & Sabatti, C. The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology. Nature Genet. 36, 1045-1051 (2004). A clear and unbiased review of the main current genetic mapping strategies that discusses analyses using extended pedigrees, affected sib-pairs and association.
-
(2004)
Nature Genet.
, vol.36
, pp. 1045-1051
-
-
Freimer, N.1
Sabatti, C.2
-
25
-
-
3242768295
-
Cost-effective analysis of candidate genes using htSNPs: A staged approach
-
Lowe, C. E. et al. Cost-effective analysis of candidate genes using htSNPs: a staged approach. Genes Immun. 5, 301-305 (2004).
-
(2004)
Genes Immun.
, vol.5
, pp. 301-305
-
-
Lowe, C.E.1
-
26
-
-
0036798007
-
The allelic structure of common disease
-
Smith, D. J. & Lusis, A. J. The allelic structure of common disease. Hum. Mol. Genet. 11, 2455-2461 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2455-2461
-
-
Smith, D.J.1
Lusis, A.J.2
-
27
-
-
84971185409
-
Correlation between relatives on the supposition of Mendelian inheritance
-
Fisher, R. A. Correlation between relatives on the supposition of Mendelian inheritance. Trans. R. Soc. Edinb: 52, 399-433 (1918).
-
(1918)
Trans. R. Soc. Edinb.
, vol.52
, pp. 399-433
-
-
Fisher, R.A.1
-
28
-
-
0034927358
-
The genetic epidemiology of cancer: Interpreting family and twin studies and their implications for molecular genetic approaches
-
Risch, N. The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approaches. Cancer Epidemiol. Biomarkers Prev. 10, 733-741 (2001).
-
(2001)
Cancer Epidemiol. Biomarkers Prev.
, vol.10
, pp. 733-741
-
-
Risch, N.1
-
29
-
-
0034972487
-
Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height
-
Hirschhorn, J. N. et al. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am. J. Hum. Genet. 69, 106-116 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 106-116
-
-
Hirschhorn, J.N.1
-
30
-
-
0025094344
-
Mapping genes in diabetes. Genetic epidemiological perspective
-
Rich, S. S. Mapping genes in diabetes. Genetic epidemiological perspective. Diabetes 39, 1315-1319 (1990).
-
(1990)
Diabetes
, vol.39
, pp. 1315-1319
-
-
Rich, S.S.1
-
31
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
Pritchard, J. K. Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet. 69, 124-137 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
32
-
-
0035978779
-
Human genetics. Tackling common disease
-
Todd, J. A. Human genetics. Tackling common disease. Nature 411, 537-539 (2001).
-
(2001)
Nature
, vol.411
, pp. 537-539
-
-
Todd, J.A.1
-
33
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
Cohen, J. C. et al. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305, 869-872 (2004).
-
(2004)
Science
, vol.305
, pp. 869-872
-
-
Cohen, J.C.1
-
34
-
-
0027194791
-
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
-
Corder, E. H. et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261, 921-923 (1993).
-
(1993)
Science
, vol.261
, pp. 921-923
-
-
Corder, E.H.1
-
35
-
-
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
-
36
-
-
0037648405
-
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
-
Ueda, H. et al., Association 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
-
37
-
-
0035978651
-
Association of NOD2 leudne-rich repeat variants with susceptibility to Crohn's disease
-
Hugot, J. R et al. Association of NOD2 leudne-rich repeat variants with susceptibility to Crohn's disease. Nature 411, 599-603. (2001).
-
(2001)
Nature
, vol.411
, pp. 599-603
-
-
Hugot, J.R.1
-
38
-
-
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
-
39
-
-
0032827782
-
The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits
-
Long, A. D. & Langley, C. H. The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits. Genome Res. 9, 720-731 (1999).
-
(1999)
Genome Res.
, vol.9
, pp. 720-731
-
-
Long, A.D.1
Langley, C.H.2
-
40
-
-
7944220775
-
The allelic spectra of common diseases may resemble the allelic spectrum of the full genome
-
Wang, W. Y. & Pike, N. The allelic spectra of common diseases may resemble the allelic spectrum of the full genome. Med. Hypotheses 63, 748-751 (2004).
-
(2004)
Med. Hypotheses
, vol.63
, pp. 748-751
-
-
Wang, W.Y.1
Pike, N.2
-
41
-
-
0035094764
-
Variation is the spice of life
-
Kruglyak, L. & Nickerson, D. A. Variation is the spice of life. Nature Genet. 27, 234-236 (2001). Using a neutral coalescence model, this article estimates the frequency distribution of SNPs in the human genome.
-
(2001)
Nature Genet.
, vol.27
, pp. 234-236
-
-
Kruglyak, L.1
Nickerson, D.A.2
-
42
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for Mendelian disease, future approaches for complex disease
-
Botstein, D. & Risch, N. Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nature Genet. 33, 228-237 (2003).
-
(2003)
Nature Genet.
, vol.33
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
43
-
-
0038392950
-
Finding genes underlying risk of complex disease by linkage disequilibrium mapping
-
Clark, A. G. Finding genes underlying risk of complex disease by linkage disequilibrium mapping. Curr. Opin. Genet. Dev. 13, 296-302 (2003).
-
(2003)
Curr. Opin. Genet. Dev.
, vol.13
, pp. 296-302
-
-
Clark, A.G.1
-
44
-
-
70349566593
-
Diabetes mellitus: A 'thrifty' genotype rendered detrimental by 'progress'?
-
Neel, J. V. Diabetes mellitus: a 'thrifty' genotype rendered detrimental by 'progress'? Am. J. Hum, Genet. 14, 353-362 (1962).
-
(1962)
Am. J. Hum. Genet.
, vol.14
, pp. 353-362
-
-
Neel, J.V.1
-
45
-
-
0344091561
-
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans
-
Carlson, C. S. et al. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nature Genet. 33, 518-521 (2003).
-
(2003)
Nature Genet.
, vol.33
, pp. 518-521
-
-
Carlson, C.S.1
-
46
-
-
0141678044
-
Haplotype sharing refines the location of an imprinted quantitative trait locus with major effect on muscle mass to a 250-kb chromosome segment containing the porcine IGF2 gene
-
Nezer, C. et al. Haplotype sharing refines the location of an imprinted quantitative trait locus with major effect on muscle mass to a 250-kb chromosome segment containing the porcine IGF2 gene. Genetics 165, 227-285 (2003).
-
(2003)
Genetics
, vol.165
, pp. 227-285
-
-
Nezer, C.1
-
47
-
-
0029982537
-
Genetic analysis of autoimmune disease
-
Vyse, T. J. & Todd, J. A. Genetic analysis of autoimmune disease. Cell 85, 311-318 (1996).
-
(1996)
Cell
, vol.85
, pp. 311-318
-
-
Vyse, T.J.1
Todd, J.A.2
-
48
-
-
0004669354
-
-
(ed Lewontin, R. C.) (Syracuse Univ. Press, New York)
-
Robertson, A. in Population Biology and Evolution (ed. Lewontin, R. C.) 265-280 (Syracuse Univ. Press, New York, 1967).
-
(1967)
Population Biology and Evolution
, pp. 265-280
-
-
Robertson, A.1
-
49
-
-
0026074820
-
Mendelian factors underlying quantitative traits in tomato: Comparison across species, generations, and environments
-
Paterson, A. H. et al. Mendelian factors underlying quantitative traits in tomato: comparison across species, generations, and environments. Genetics 127, 181-197 (1991).
-
(1991)
Genetics
, vol.127
, pp. 181-197
-
-
Paterson, A.H.1
-
50
-
-
0026525956
-
Effects of P element insertions on quantitative traits in Drosophila melanogaster
-
Mackay, T. F., Lyman, R. F. & Jackson, M. S. Effects of P element insertions on quantitative traits in Drosophila melanogaster. Genetics 130, 315-332 (1992).
-
(1992)
Genetics
, vol.130
, pp. 315-332
-
-
Mackay, T.F.1
Lyman, R.F.2
Jackson, M.S.3
-
51
-
-
0034957069
-
The distribution of the effects of genes affecting quantitative traits in livestock
-
Hayes, B, & Goddard, M. E. The distribution of the effects of genes affecting quantitative traits in livestock. Genet. Sel. Evol. 33, 209-229 (2001).
-
(2001)
Genet. Sel. Evol.
, vol.33
, pp. 209-229
-
-
Hayes, B.1
Goddard, M.E.2
-
52
-
-
0036245475
-
Understanding quantitative genetic variation
-
Barton, N. H. & Keightley, P. D. Understanding quantitative genetic variation. Nature Rev. Genet. 3, 11-21 (2002).
-
(2002)
Nature Rev. Genet.
, vol.3
, pp. 11-21
-
-
Barton, N.H.1
Keightley, P.D.2
-
53
-
-
0037303468
-
A polygenic basis for late-onset disease
-
Wright, A., Charlesworth, B., Rudan, I., Carothers, A. & Campbell, H. A polygenic basis for late-onset disease. Trends Genet. 19, 97-106 (2003).
-
(2003)
Trends Genet.
, vol.19
, pp. 97-106
-
-
Wright, A.1
Charlesworth, B.2
Rudan, I.3
Carothers, A.4
Campbell, H.5
-
54
-
-
0027428494
-
Statistical evaluation of multiple-locus linkage data in experimental species and its relevance to human studies: Application to nonobese diabetic (WOD) mouse and human insulin-dependent Diabetes mellitus (IDDM)
-
Risch, N., Ghosh, S. & Todd, J. A. Statistical evaluation of multiple-locus linkage data in experimental species and its relevance to human studies: application to nonobese diabetic (WOD) mouse and human insulin-dependent Diabetes mellitus (IDDM). Am. J. Hum. Genet. 53, 702-714 (1993).
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 702-714
-
-
Risch, N.1
Ghosh, S.2
Todd, J.A.3
-
56
-
-
0031714655
-
The population genetics of adaptation: The distribution of factors fixed during adaptive evolution
-
Orr, H. A. The population genetics of adaptation: the distribution of factors fixed during adaptive evolution. Evolution 52, 935-949 (1998).
-
(1998)
Evolution
, vol.52
, pp. 935-949
-
-
Orr, H.A.1
-
57
-
-
1942467065
-
Genomic variants in exons and introns: Identifying the splicing spoilers
-
Pagani, F. & Baralle, F. E. Genomic variants in exons and introns: identifying the splicing spoilers. Nature Rev. Genet. 5, 389-396 (2004).
-
(2004)
Nature Rev. Genet.
, vol.5
, pp. 389-396
-
-
Pagani, F.1
Baralle, F.E.2
-
58
-
-
0042359360
-
Functional analysis of human promoter polymorphisms
-
Hoogendoorn, B. et al. Functional analysis of human promoter polymorphisms. Hum. Mol. Genet. 12, 2249-2254 (2003).
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2249-2254
-
-
Hoogendoorn, B.1
-
59
-
-
0012789869
-
Allelic variation in gene expression is common in the human genome
-
Lo, H. S. et al. Allelic variation in gene expression is common in the human genome. Genome Res. 13, 1855-1862 (2003).
-
(2003)
Genome Res.
, vol.13
, pp. 1855-1862
-
-
Lo, H.S.1
-
60
-
-
10744220764
-
Susceptibility to leprosy is associated with PARK2 and PACRG
-
Mira, M. T et al. Susceptibility to leprosy is associated with PARK2 and PACRG. Nature 427, 636-640 (2004).
-
(2004)
Nature
, vol.427
, pp. 636-640
-
-
Mira, M.T.1
-
61
-
-
4043128071
-
Genetic analysis of genome-wide variation in human gene expression
-
Morley, M. et al. Genetic analysis of genome-wide variation in human gene expression. Nature 430, 743-747 (2004).
-
(2004)
Nature
, vol.430
, pp. 743-747
-
-
Morley, M.1
-
62
-
-
11144339384
-
Long-range control of gene expression: Emerging mechanisms and disruption in disease
-
Kleinjan, D. A. & van Heyningen, V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am. J. Hum. Genet. 76, 8-32 (2005).
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 8-32
-
-
Kleinjan, D.A.1
Van Heyningen, V.2
-
63
-
-
0033925805
-
The relationship between the sibling recurrence-risk ratio and genotype relative risk
-
Rybicki, B. A. & Elston, R. C. The relationship between the sibling recurrence-risk ratio and genotype relative risk. Am. J. Hum. Genet. 66, 593-604 (2000).
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 593-604
-
-
Rybicki, B.A.1
Elston, R.C.2
-
64
-
-
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
-
65
-
-
0033927466
-
Power of linkage versus association analysis of quantitative traits, by use of variance-components models, for sibship data
-
Sham, P. C., Cherny, S. S., Purcell, S. & Hewitt, J. K. Power of linkage versus association analysis of quantitative traits, by use of variance-components models, for sibship data. Am. J. Hum. Genet. 66, 1616-1630 (2000).
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1616-1630
-
-
Sham, P.C.1
Cherny, S.S.2
Purcell, S.3
Hewitt, J.K.4
-
66
-
-
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
-
67
-
-
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). This paper examines analyses of tag SNPs and suggests that it might be best to discard haplotype information and consider only the main effects of tag SNPs to avoid losing power owing to increased degrees of freedom.
-
(2003)
Hum. Hered.
, vol.56
, pp. 18-31
-
-
Chapman, J.M.1
Cooper, J.D.2
Todd, J.A.3
Clayton, D.G.4
-
68
-
-
0345099500
-
The usefulness of different density SNP maps for disease association studies of common variants
-
Wang, W. Y. & Todd, J. A. The usefulness of different density SNP maps for disease association studies of common variants. Hum. Mol. Genet. 12, 3145-3149 (2003). Based on sampling simulations of published, near-complete SNP maps, this study assesses the usefulness of different density SNP maps for LD mapping.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 3145-3149
-
-
Wang, W.Y.1
Todd, J.A.2
-
69
-
-
12144290432
-
The impact of SNP density on fine-scale patterns of linkage disequilibrium
-
Ke, X. et al. The impact of SNP density on fine-scale patterns of linkage disequilibrium. Hum. Mol. Genet. 13, 577-588 (2004).
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 577-588
-
-
Ke, X.1
-
70
-
-
10044279127
-
Use of unphased multilocus genotype data in indirect association studies
-
Clayton, D., Chapman, J. & Cooper, J. Use of unphased multilocus genotype data in indirect association studies. Genet. Epidemiol. 27, 415-428 (2004).
-
(2004)
Genet. Epidemiol.
, vol.27
, pp. 415-428
-
-
Clayton, D.1
Chapman, J.2
Cooper, J.3
-
71
-
-
4344675303
-
Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene
-
Neientsev, S. et al. Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene. Hum. Mol. Genet. 13, 1633-1639 (2004).
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1633-1639
-
-
Neientsev, S.1
-
72
-
-
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
-
73
-
-
0037648420
-
Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene
-
Twells, R. C. et al. Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene. Genome Res. 13, 845-855 (2003).
-
(2003)
Genome Res.
, vol.13
, pp. 845-855
-
-
Twells, R.C.1
-
74
-
-
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
-
75
-
-
0043267974
-
Haplotype blocks and linkage disequilibrium in the human genome
-
Wall, J. D. & Pritchard, J. K. Haplotype blocks and linkage disequilibrium in the human genome. Nature Rev. Genet. 4, 587-597 (2003).
-
(2003)
Nature Rev. Genet.
, vol.4
, pp. 587-597
-
-
Wall, J.D.1
Pritchard, J.K.2
-
76
-
-
19944432329
-
Investigating the utility of combining Φ29 whole genome amplification and highly multiplexed single nucleotide polymorphism BeadArray genotyping
-
Pask, R. et al. Investigating the utility of combining Φ29 whole genome amplification and highly multiplexed single nucleotide polymorphism BeadArray genotyping. BMC Biotechnol. 4, 15 (2004).
-
(2004)
BMC Biotechnol.
, vol.4
, pp. 15
-
-
Pask, R.1
-
77
-
-
85101729751
-
Genetic association studies
-
in the press
-
Cordell, H. J. & Clayton, D. G. Genetic association studies. Lancet (in the press).
-
Lancet
-
-
Cordell, H.J.1
Clayton, D.G.2
-
78
-
-
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
-
79
-
-
8444223091
-
Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples
-
Ke, X. et al. Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples. Hum. Mol. Genet. 13, 2557-2565 (2004).
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2557-2565
-
-
Ke, X.1
-
81
-
-
0025959790
-
Effect modification and the limits of biological inference from epidemiologic data
-
Thompson, W. D. Effect modification and the limits of biological inference from epidemiologic data. J. Clin. Epidemiol. 44, 221-232 (1991).
-
(1991)
J. Clin. Epidemiol.
, vol.44
, pp. 221-232
-
-
Thompson, W.D.1
-
82
-
-
0036797562
-
Epistasis: What it means, what it doesn't mean, and statistical methods to detect it in humans
-
Cordell, H. J. Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans. Hum. Mol. Genet. 11, 2463-2468 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2463-2468
-
-
Cordell, H.J.1
-
83
-
-
0036155238
-
A perspective on epistasis: Limits of models displaying no main effect
-
Culverhouse, R., Suarez, B. K., Lin, J. & Reich, T. A perspective on epistasis: limits of models displaying no main effect. Am. J. Hum. Genet. 70, 461-471 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 461-471
-
-
Culverhouse, R.1
Suarez, B.K.2
Lin, J.3
Reich, T.4
-
84
-
-
7444257916
-
Genetics, statistics and human disease: Analytical retooling for complexity
-
Thomton-Wells, T. A., Moore, J. H. & Haines, J. L. Genetics, statistics and human disease: analytical retooling for complexity. Trends. Genet. 20, 640-647 (2004).
-
(2004)
Trends. Genet.
, vol.20
, pp. 640-647
-
-
Thomton-Wells, T.A.1
Moore, J.H.2
Haines, J.L.3
-
85
-
-
0042881041
-
Mathematical multi-locus approaches to localizing complex human trait genes
-
Hoh, J. & Ott, J. Mathematical multi-locus approaches to localizing complex human trait genes. Nature Rev. Genet 4, 701-709 (2003).
-
(2003)
Nature Rev. Genet
, vol.4
, pp. 701-709
-
-
Hoh, J.1
Ott, J.2
-
86
-
-
0035922669
-
Epidemiological methods for studying genes and environmental factors in complex diseases
-
Clayton, D. & McKeigue, P. M. Epidemiological methods for studying genes and environmental factors in complex diseases. Lancet 358, 1356-1360 (2001).
-
(2001)
Lancet
, vol.358
, pp. 1356-1360
-
-
Clayton, D.1
McKeigue, P.M.2
-
87
-
-
0027320815
-
Review of the putative association of dopamine D2 receptor and alcoholism: A meta-analysis
-
Pato, C. N., Macciardi, F., Pato, M. T., Verga, M. & Kennedy, J. L. Review of the putative association of dopamine D2 receptor and alcoholism: a meta-analysis. Am. J. Med. Genet. 48, 78-82 (1993).
-
(1993)
Am. J. Med. Genet.
, vol.48
, pp. 78-82
-
-
Pato, C.N.1
Macciardi, F.2
Pato, M.T.3
Verga, M.4
Kennedy, J.L.5
-
88
-
-
12144285594
-
Assessing the impact of population stratification on genetic association studies
-
Freedman, M. L. et al. Assessing the impact of population stratification on genetic association studies. Nature Genet. 36, 388-393 (2004).
-
(2004)
Nature Genet.
, vol.36
, pp. 388-393
-
-
Freedman, M.L.1
-
89
-
-
2442585696
-
The effects of human population structure on large genetic association studies
-
Marchini, J., Cardon, L. R., Phillips, M. S. & Donnelly, P. The effects of human population structure on large genetic association studies. Nature Genet. 36, 512-517 (2004).
-
(2004)
Nature Genet.
, vol.36
, pp. 512-517
-
-
Marchini, J.1
Cardon, L.R.2
Phillips, M.S.3
Donnelly, P.4
-
90
-
-
0033358548
-
Use of unlinked genetic markers to detect population stratification in association studies
-
Pritchard, J. K. & Rosenberg, N. A. Use of unlinked genetic markers to detect population stratification in association studies. Am. J. Hum. Genet. 65, 220-228 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 220-228
-
-
Pritchard, J.K.1
Rosenberg, N.A.2
-
91
-
-
0037648359
-
Contral of confounding of genetic associations in stratified populations
-
Hoggart, C. J. et al. Contral of confounding of genetic associations in stratified populations. Am. J. Hum. Genet. 72, 1492-1504 (2003).
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1492-1504
-
-
Hoggart, C.J.1
-
92
-
-
13144266290
-
Reply to 'Genomic control to the extreme'
-
Marchini, J., Cardon, L. R., Phillips, M. S. & Donnelly, P. Reply to 'Genomic control to the extreme'. Nature Genet. 36, 1131 (2004).
-
(2004)
Nature Genet.
, vol.36
, pp. 1131
-
-
Marchini, J.1
Cardon, L.R.2
Phillips, M.S.3
Donnelly, P.4
-
93
-
-
0032714352
-
Genomic control for association studies
-
Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics 55, 997-1004 (1999).
-
(1999)
Biometrics
, vol.55
, pp. 997-1004
-
-
Devlin, B.1
Roeder, K.2
-
94
-
-
0001328729
-
The mortality of doctors in relation to their smoking habits
-
Doll, R. & Hill, A. B. The mortality of doctors in relation to their smoking habits. BMJ 228, 1451-1455 (1954).
-
(1954)
BMJ
, vol.228
, pp. 1451-1455
-
-
Doll, R.1
Hill, A.B.2
-
96
-
-
0029150074
-
A comparison of linkage disequilibrium measures for fine-scale mapping
-
Devlin, B. & Risch, N. A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 29, 311-322 (1995).
-
(1995)
Genomics
, vol.29
, pp. 311-322
-
-
Devlin, B.1
Risch, N.2
-
97
-
-
0000951097
-
The evolutionary dynamics of complex polymorphisms
-
Lewontin, R. C. & Kojima, K. The evolutionary dynamics of complex polymorphisms. Evolution 14, 458-472 (1960).
-
(1960)
Evolution
, vol.14
, pp. 458-472
-
-
Lewontin, R.C.1
Kojima, K.2
-
98
-
-
0002907949
-
The interaction of selection and linkage. I. General considerations; heterotic models
-
Lewontin, R. C. The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 49, 49-67 (1964).
-
(1964)
Genetics
, vol.49
, pp. 49-67
-
-
Lewontin, R.C.1
-
99
-
-
0014357408
-
The effects of inbreeding at loci with heterozygote advantage
-
Hill, W. G. & Robertson, A. The effects of inbreeding at loci with heterozygote advantage. Genetics 60, 615-628 (1968).
-
(1968)
Genetics
, vol.60
, pp. 615-628
-
-
Hill, W.G.1
Robertson, A.2
-
100
-
-
0036137130
-
Linkage disequilibrium and the mapping of complex human traits
-
Weisa, K. M. & Clark, A. G. Linkage disequilibrium and the mapping of complex human traits. Trends Genet. 18, 19-24 (2002).
-
(2002)
Trends Genet.
, vol.18
, pp. 19-24
-
-
Weisa, K.M.1
Clark, A.G.2
-
101
-
-
0344826588
-
Haplotype tagging single nucleotide polymorphisms and association studies
-
Thompson, D., Stram, D., Goldgar, D. & Witte, J. S. Haplotype tagging single nucleotide polymorphisms and association studies. Hum. Hered. 56, 48-55 (2003).
-
(2003)
Hum. Hered.
, vol.56
, pp. 48-55
-
-
Thompson, D.1
Stram, D.2
Goldgar, D.3
Witte, J.S.4
-
102
-
-
0042387813
-
Assessing the performance of the haplotype block model of linkage disequilibrium
-
Wall, J. D. & Pritchard, J. K. Assessing the performance of the haplotype block model of linkage disequilibrium. Am. J. Hum. Genet. 73, 502-515 (2003). A review on haplotype blocks and LD in the human genome.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 502-515
-
-
Wall, J.D.1
Pritchard, J.K.2
-
104
-
-
1642295096
-
Assessing the probability that a positive report is false: An approach for molecular epidemiology studies
-
Wacholder, S. et al. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J. Natl Cancer Inst. 96, 434-442 (2004).
-
(2004)
J. Natl. Cancer Inst.
, vol.96
, pp. 434-442
-
-
Wacholder, S.1
|