Bibliography:
Linkage Disequilibrium Analysis
(2002)
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+ 2002

  1. TDT
    H Ahsan, SE Hodge, GA Heiman, MD Begg, ES Susser (2002), "Relative risk for genetic associations: the case-parent triad as a variant of case-cohort design", International Journal of Epidemiology, 31(3):669-678.

  2. Joshua M Akey, Ge Zhang, Kun Zhang, Li Jin, Mark D Shriver (2002), "Interrogating a high-density SNP map for signatures of natural selection", Genome Research, 12(12):1805-1814.

  3. Allcock RJ, Atrazhev AM, Beck S, de Jong PJ, Elliott JF, Forbes S, Halls K, Horton R, Osoegawa K, Rogers J, Sawcer S, Todd JA, Trowsdale J, Wang Y, Williams S. (2002), "The MHC haplotype project: a resource for HLA-linked association studies", Tissue Antigens, 59(6):520-521.

  4. population-structure
    Kristin G Ardlie, Leonid Kruglyak, Mark Seielstad (2002), "Patterns of linkage disequilibrium in human genome", Nature Reviews Genetics, 3(4):299-310.
    [abstract]

  5. Kristin G Ardlie, Kathryn L Lunetta, Mark Seielstad (2002), "Testing for population subdivision and association in four case-control studies", American Journal of Human Genetics, 71(2):304-311.
    [abstract]

  6. quantitative-trait
    Silviu-Alin Bacanu, B Devlin, Kathryn Roeder (2002), "Association studies for quantitative traits in structured populations", Genetic Epidemiology, 22(1):78-93.

  7. quantitative-trait
    TDT
    Joel S Bader, Pak Sham (2002), "Family-based association tests for quantitative traits using pooled DNA", European Journal of Human Genetics, 10(12): 870-878.

  8. V Bafna, S Istrail, G Lancia (2002), "Practical algorithms for the single individual SNP haplotyping problem", Workshop on Algorithms in Bioinformatics, pp.29-42.

  9. A Bansal, D van den Boom, S Kammerer, C Honisch, G Adam, CR Cantor, P Kleyn, A Braun (2002), "Association testing by DNA pooling: An effective initial screen", Proceedings of National Academy of Sciences, 99:16871-16874.

  10. Michael R Barnes (2002), "SNP and mutation data on the Web - hidden treasures for uncovering", Comparative and Functional Genomics, 3(1):67-74.

  11. BJ Barratt, F Payne, HE Rance, S Nutland, JA Todd, DG Clayton (2002), "Identification of the sources of error in allele frequency estimations from pooled DNA indicates an optimal experimental design", Annals of Human Genetics, 66:393-405.

  12. NH Barton, PD Keightley (2002), "Multifactorial genetics: Understanding quantitative genetics variation", Nature Reviews Genetics, 3:11-21.
    [abstract]

  13. T Becker, M Knapp (2002), "Efficiency of haplotype frequency estimation when nuclear familiy information is included", Human Heredity, 54(1):45-53.

  14. C Bourgain, E Genin, C Ober, F Clerget-Darpoux (2002), "Missing data in haplotype analysis: a study on the MILC method", Annals of Human Genetics, 66(1):99-108.
    [abstract](?) [ abstract]

  15. Paul Brennan and Paolo Boffetta (2002), "Proper controls for SNP studies?" (letter to the editor), Carcinogenesis, 23(12):2135.
    [abstract]

  16. NE Caporaso (2002), "Why have we failed to find the low penetrance genetic constituents of common cancers?" Cancer Epidemiology Biomarkers & Prevention, 11:1544-1549.

  17. NH Chapman, EA Thompson (2002), "The effect of population history on the lengths of ancestral chromosome segments", Genetics, 162:1217-1229.
    [PDF]

  18. LYY Chen, SH Lu, ESC Shih, MJ Hwang (2002), "Single nucleotide polymorphism mapping using genome-wide unique sequences", Genome Research, 12:1106-1111.

  19. population-structure
    Heather E Collins-Schramm, Carolyn M. Phillips, Darwin J. Operario, Jane S. Lee, James L. Weber, Robert L. Hanson, William C. Knowler, Richard Cooper, Hongzhe Li, Michael F. Seldin (2002), "Ethnic-difference markers for use in mapping by admixture linkage disequilibrium ", American Journal of Human Genetics, 70:737-750.
    [abstract]

  20. HJ Cordell, DG Clayton (2002), "A unified stepwise regression procedure for evaluating the relative effects of polymorphims within a gene using case/control or family data: application to HLA in type 1 diabetes", American Journal of Human Genetics, 70:124-141.
    [abstract]

  21. D Curtis, BV North, HM Gurling, E Blaveri, PC Sham (2002), "A quick and simple method for detecting subjects with abnormal genetic background in case-control samples", Annals of Human Geneics, 66(3):235-244.
    [abstract]

  22. Ingrid Dahlman et al. (2002), "Parameters for reliable results in genetic association studies in common disease", Nature Genetics, 30(2):149-150.

  23. haplotype-block
    E Dawson, Abecasis GR, Bumpstead S, Chen Y, Hunt S, Beare DM, Pabial J, Dibling T, Tinsley E, Kirby S, Carter D, Papaspyridonos M, Livingstone S, Ganske R, Lohmussaar E, Zernant J, Tonisson N, Remm M, Magi R, Puurand T, Vilo J, Kurg A, Rice K, Deloukas P, Mott R, Metspalu A, Bentley DR, Cardon LR, Dunham I (2002), "A first-generation linkage disequilibrium map of human chromosome 22", Nature, 418(6897):544-548.

  24. Michael Dean, Mary Carrington, Stephen J. O'Brien (2002), "Balanced polymorphism selected by genetic versus infectious human disease" Annual Review of Genomics and Human Genetics, 3:263-292.

  25. I Dunham (2002), "Human genome sequences: enigmatic variations", Mutagenesis, 17:457-461.

  26. TDT
    D Fallin, W Chen, TH Beaty, KY Liang (2002), "Power comparisons for genotypic versus allelic TDT methods with >2 alleles" (letter to the editor), Genetic Epidemiology, 23:458-461.

  27. quantitative-trait
    Ruzong Fan, Joanna Floros, Momiao Xiong (2002), "Models and tests of linkage and association studies of quantitative trait locus for multi-allele marker loci", Human Heredity, 53(3):130-145.

  28. quantitative-trait
    R Fan, J Jung (2002), "Association studies of QTL for multi-allele markers by mixed models", Human Heredity, 54:132-150.

  29. quantitative-trait
    R Fan, M Xiong (2002), "High resolution mapping of quantitative trait loci by linkage disequilibrium analysis", European Journal of Human Genetics, 10(10):607-615.

  30. Paul Fearnhead, Peter Donnelly (2002), "Approximate likelihood methods for estimating local recombination rates", Journal of Royal Statistical Soceity B, 64:657-680.
    [abstract]

  31. Boris Freidlin, Gang Zheng, Zhaohai Li, Joseph L Gastwirth (2002), "Trend tests for case-control studies of genetic markers: power, sample size and robustness", Human Heredity, 53(3):146-152.

  32. applications
    SM Fullerton, A Bartoszewicz, G Ybazeta, Y Horikawa, GI Bell, KK Kidd, NJ Cox, RR Hudson, A di Rienzo (2002), "Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus", American Journal of Human Genetics, 70(5):1096-1106.
    [abstract] [PDF]

  33. haplotype-block
    Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002), "The structure of haplotype blocks in the human genome", Science, 296:2225-2229.

  34. Chad Garner, Montgomery Slatkin (2002), "Likelihood-dased disequilibrium mapping for two-marker haplotype data", Theoretical Population Biology, 61(2):153-161.

  35. WJ Gauderman (2002), "Sample size requirements for matched case-control studies of gene-environment interaction", Statistics in Medicine, 21:35-50.
    [abstract]

  36. WJ Gauderman (2002), "Sample size requirements for association studies of gene-gene interaction", American Journal of Epidemiology, 155:478-484.

  37. TDT
    F Geller, A Ziegler (2002), "Detection rates for genotyping errors in SNPs using the trio design", Human Heredity, 54:111-117.

  38. TDT
    Emmanuelle Génin, Alexandre A Todorov, Françoise Clerget-Darpoux (2002), "Properties of the transmission-disequilibrium test in the presence of inbreeding", Genetic Epidemiology, 22(2):116-127

  39. TDT
    Varghese George, Purushottam W Laud (2002), "A Bayesian approach to the transmission/disequilibrium test for binary traits", Genetic Epidemiology, 22(1):41-51.

  40. AM Glazier, JH Nadeau, TJ Aitman (2002), "Finding genes that underlie complex traits", Science, 298:2345-2349.
    [PDF]

  41. population-structure
    DB Goldstein, L Chikhi (2002), "Human migrations and population structure: what we know and why it matters", Annual Review of Genomics and Human Genetics, 3:129-152.

  42. D Gordon, SJ Finch, M Nothnagel, J Ott (2002), "Power and sample size calculations for case-control genetic association tests when errors are present: application to single nucleotide polymorphisms", Human Heredity, 54:22-33.

  43. D Gusfield (2002), "Haplotyping as perfect phylogeny: conceptual framework and effecient solutions", Proceedings of the Sixth International Conference on Research in Computational Molecular Biology , pp.166-175.

  44. population-structure
    Diana Hall, Ellen M Wijsman, J Louw Roos, Joseph A Gogos, Maria Karayiorgou (2002), "Extended intermarker linkage disequilibrium in the Afrikaners", Genome Research, 12:956-961.

  45. John Hardy (2002), "The real problem in association studies" (Letter to the Editor), American Journal of Medical Genetics, 114:253.
    (Commented by DE Comings, 116B(1):102 (2003))

  46. K Hemminki and PG Shields (2002), "Skilled use of DNA polymorphisms as a tool for polygenic cancers" (commentary), Carcinogenesis, 23(3):379-380.
    [abstract]

  47. K Hemminki and A Forsti (2002), "Proper controls for SNP studies?" (letter to the editor), Carcinogenesis, 23(8):1405-1406.
    [abstract]

  48. K Hemminki and A Forsti (2002), "Controls need to be selected for the type of SNP study" (response to letter to the editor), Carcinogenesis, 23(12):2137.
    [abstract]

  49. population-structure
    P Heutink, BA Oostra (2002), "Gene finding in genetically isolated populations", Human Molecular Genetics, 11:2507-2515.
    [PDF]

  50. JN Hirschhorn, D Altshuler (2002), "Once and again -- issues surrounding replication in genetic association studies" (editorial), Journal of Clinical Endocrinology & Metabolism, 87:4438-4441.
    [PDF]

  51. JN Hirschhorn, K Lohmueller, E Byrne, K Hirschhorn (2002), "A comprehensive review of genetic association studies", Genetics in Medicine, 4(2):45-61
    [PDF]

  52. quantitative-trait
    Fang-Chi Hsu, Kung-Yee Liang, Terri H. Beaty, Kathleen C. Barnes (2002), "Unified sampling approach for multipoint linkage disequilibrium mapping of qualitative and quantitative traits", Genetic Epidemiology, 22(4):298-312.

  53. G Hu, B Modrek, H Riise Stensland, J Saarela, P Pajukanta, V Kustanovich, L Peltonen, S Nelson, C Lee (2002), "Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes", Pharmacogenomics Journal, 2:236-242.

  54. TDT
    Mark M Iles (2002), "Effect of mode of inheritance when calculating the power of a transmission/disequilibrium test study", Human Heredity, 53(3):153-157.
    [PDF]

  55. TDT
    MM Iles (2002), "On calculating the power of a TDT study - comparison of methods", Annals of Human Genetics, 66(4):323-328.
    [abstract] [PDF]

  56. MR Jackson, E Genin, M Knapp, JL Secary (2002), "Accurate power approximation for chi2-tests in case-control association studies of complex disease genes", Annals of Human Genetics, 66(4):307-321.
    [abstract]

  57. population-structure
    Henrik Kaessmann, Sebastian Zöllner, Anna C. Gustafsson, Victor Wiebe, Maris Laan, Joakim Lundeberg, Mathias Uhlén, Svante Pääbo (2002), "Extensive linkage disequilibrium in small human populations in Eurasia ", American Journal of Human Genetics, 70:673-685.
    [abstract]

  58. population-structure
    T Katoh, S Mano, T Ikuta, B Munkhbat, K Tounai, H Ando, N Munkhtuvshin, T Imanishi, H Inoko, G Tamiya (2002), "Genetic isolates in East Asia: a study of linkage disequilibrium in the X chromosome", American Journal of Human Genetics, 71(2):395-400.
    [abstract]

  59. applications
    B Keavney (2002), "Genetic epidemiological studies of coronary heart disease", International Journal of Epidemiology, 31:730-736.

  60. KM Kirk, LR Cardon (2002), "The impact of genotyping error on haplotype reconstruction and frequency estimation", European Journal of Human Genetics, 10:616-622.

  61. Y Kitamura, M Moriguchi, H Kaneko, H Morisaki, T Morisaki, K Toyama, N Kamatani (2002), "Determination of probability distribution of diplotype configuration (diplotype distribution) for each subject from genotypic data using the EM algorithm", Annals of Human Genetics, 66(3):183-193.
    [abstract] [PDF]

  62. Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, Richardsson B, Sigurdardottir S, Barnard J, Hallbeck B, Masson G, Shlien A, Palsson ST, Frigge ML, Thorgeirsson TE, Gulcher JR, Stefansson K (2002), "A high-resolution recombination map of the human genome", Nature Genetics, 31(3):241-247.
    [PDF]

  63. Christoph Lange, Nan M Laird (2002), "Power calculations for a general class of family-based association tests: dichotomous traits", American Journal of Human Genetics, 71:575-584.

  64. quantitative-trait
    Christoph Lange, Dawn L DeMeo, Nan M Laird (2002), "Power and design considerations for a general class of family-based association tests: quantitative traits", American Journal of Human Genetics, 71:1330-1341.

  65. Fabrice Larribe, Sabin Lessard, Nicholas J Schork (2002), "Gene mapping via the ancestral recombination graph", Theoretical Population Biology, 62(2):215-229.

  66. Laura C Lazzeroni (2002), "Allele sharing and allelic association I: Sib pair tests with increased power", Genetic Epidemiology, 22(4):328-344.

  67. C Lee (2002), "Irresistible force meets immovable object: SNP mapping of complex diseases", Trends in Genetics, 18:67-69.

  68. WC Lee (2002), "Testing for Candidate gene linkage disequilibrium using a dense array of single nucleotide polymorphisms in case-parents studies", Epidemiology, 13:545-551.

  69. TDT
    WC Lee (2002), "Transmission/disequilibrium test (TDT) when neither parent is available in some families: a non-iterative approach", Journal of Epidemiol Biostat, 7:97-103.

  70. CW Lewis (2002), "Genetic association studies: Design, analysis and interpretation", Briefings in Bioinformatics, 3(2):146-153

  71. MJ Lercher, LD Hurst (2002), "Human SNP variability and mutation rate are higher in regions of high recombination", Trends in Genetics, 18(7):337-340.

  72. Martin J Lercher, Laurence D Hurst (2002), "Can mutation or fixation biases explain the allele frequency distribution of human single nucleotide polymorphisms (SNPs)?", Gene, 300(1-2):53-58.

  73. Zhaohai Li, Mitchell H Gail, David Pee, Joseph L Gastwirth (2002), "Statistical properties of Teng and Risch's sibship type tests for detecting an association between disease and a candidate allele", Human Heredity, 53(3):114-129.

  74. S Lin, DJ Cutler, ME Zwick, A Chakravarti (2002), "Haplotype inference in random population samples", American Journal of Human Genetics, 71:1129-1137.

  75. haplotype-block
    R Lippert, R Schwartz, G Lancia, S Istrail (2002), "Algorithmic strategies for the single nucleotide polymorphism haplotype assembly problem", Briefings in Bioinformatics, 3(1):23-31.

  76. TDT
    Ying Liu, David Tritchler, Shelley B Bull (2002), "A unified framework for transmission-disequilibrium test analysis of discrete and continuous traits", Genetic Epidemiology, 22(1):26-40.

  77. TDT
    SH Lo, T Zheng (2002), "Backward Haplotype Transmission Association (BHTA) algorithm - a fast multiple-marker screening method", Human Heredity, 53(4):197-215.

  78. TDT
    I Malkin, E Ginsburg, RC Elston (2002), "Increase in power of transmission-disequilibrium tests for quantitative traits", Genetic Epidemiology, 23(3):234-244.

  79. haplotype-block
    N Maniatis, A Collins, CF Xu, LC McCarthy, DR Hewett, W Tapper, S Ennis, X Ke, NE Morton (2002), "The first linkage disequilibrium (LD) maps: Delineation of hot and cold blocks by diplotype analysis", Proceedings of National Academy of Sciences, 99(4):2228-2233.

  80. R McGinnis, S Shifman, A Darvasi (2002), "Power and efficiency of the TDT and case-control design for association scans", Behavior Genetics, 32(2):135-144.
    [PDF]

  81. G McVean, P Awadalla, P Fearnhead (2002), "A coalescent-based method for detecting and estimating recombination form gene sequences", Genetics, 162(2):987-991.

  82. Sean Mooney, Teri Klein (2002), "The functional importance of disease-associated mutation", BMC Bioinformatics, 3:24.

  83. AP Morris, JC Whittaker, DJ Balding (2002), "Fine-scale mapping of disease loci via shattered coalescent modeling of genealogies", American Journal of Human Genetics, 70:686-707.
    [abstract]

  84. RW Morris, NL Kaplan (2002), "On the advantage of haplotype analysis in the presence of multiple disease susceptibility alleles", Genetic Epidemiology, 23:221-233.

  85. NE Morton , A Collins (2002), "Toward positional cloning with SNPs", Current Opinion on Mol Ther, 4(3):259-264.

  86. Michael W Nachman (2002), "Variation in recombination rate across the genome: evidence and implications", Current Opinion in Genetics & Development, 12(6):657-663.

  87. M Neuhauser (2002), "Exact tests for the analysis of case-control studies of genetic markers", Human Heredity, 54:151-156.

  88. population-structure
    G Nicholson, AV Smith, F Jonsson, O Gustafsson, K Stefansson, P Donnelly (2002), "Assessing population differentiation and isolation from single nucleotide polymorphism data", Journal of Royal Statistical Soceity B, 64:695-716.
    [abstract]

  89. T Niu, ZS Qin, X Xu, JS Liu (2002), "Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms", American Journal of Human Genetics, 70:157-169.
    [abstract] [PDF ] [HAPLOTYPER program ]

  90. IM Nolte, GJ te Meerman (2002), "The probability that similar haplotypes are identical by descent", Annals of Human Genetics, 66(3):195-209.
    [abstract]

  91. M Nordborg, JO Borevitz, J Bergelson, CC Berry, J Chory, J Hagenblad, M Kreitman, JN Maloof, T Noyes, PJ Oefner, EA Stahl, D Weigel (2002), "The extent of linkage disequilibrium in Arabidopsis thaliana", Nature Genetics, 30(2):190-193.

  92. M Nordborg, S Tavare (2002), "Linkage disequilibrium: what history has to tell us", Trends in Genetics, 18:83-90

  93. M Nothnagel, R Furst, K Rohde (2002), "Entropy as a measure for linkage disequilibrium over multilocus hapolotype blocks", Human Heredity, 54:174-185.

  94. J Ohashi, K Tokunaga (2002), "The expected power of genome-wide linkage disequilibrium testing using single nucleotide polymorphism markers for detecting a low-frequency disease variant", Annals of Human Genetics, 66(4):297-306.
    [abstract]

  95. quantitative-trait
    P Onkamo, V Ollikainen, P Sevon, HTT Toivonen, H Mannila, J Kere (2002), "Association analysis for quantitative traits by data mining: QHPM", Annals of Human Genetics, 66(5-6):419-429.
    [abstract]

  96. MV Osier, KH Cheung, JR Kidd, AJ Pakstis, PL Miller, KK Kidd (2002), "ALFRED: an allele frequency database for anthropology", American Journal of Physical Anthropology, 119:77-83.

  97. X Pan, SM Weissman (2002), "An approach for global scanning of single nucleotide variations", Proceedings of National Academy of Sciences, 99:9346-9351.

  98. Ruth M Pfeiffer, Joni L Rutter, Mitchell H Gail, Jeffery Struewing, Joseph L Gastwirth (2002), "Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibrium", Genetic Epidemiology, 22(1):94-102.

  99. D Posada, KA Crandall, EC Holmes (2002), "Recombination in evolutionary genomics", Annual Review of Genetics, 36:75-97.

  100. population-structure
    JK Pritchard, NJ Cox (2002), "The allelic architecture of human disease genes: common disease-common variant... or not?", Human Molecular Genetics, 11:2417-2423.
    [PDF]

  101. Dajun Qian, Lars Beckmann (2002), "Minimum-recombinant haplotyping in pedigrees", American Journal of Human Genetics, 70(6):1434-1445.
    [abstract]

  102. Zhaohui S Qin, Tianhua Niu, Jun S Liu (2002), "Partition-ligation-expectation-maximization algorithm for haplotype inference with single-nucleotide polymorphisms" (letter to the editor), American Journal of Human Genetics, 71:1242-1247.
    [html] [PL-EM program ]

  103. JA Rafalski (2002), "Novel genetic mapping tools in plants: SNPs and LD-based approaches", Plant Sciences, 162:329-333.

  104. H Rajeevan, M Osier, KH Cheung, H Deng, L Druskin, R Heinzen, JR Kidd, S Stein, AJ Pakstis, NP Tosches, CC Yeh, PL Miller, K Kidd (2002), "ALFRED - the ALelle FREquency Database", Nucleic Acids Research, 31(1):270-271.
    [PDF] [ALFRED database]

  105. V Ramensky, P Bork, S Sunyaev (2002), "Human non-synonymous SNPs: server and survey", Nucleic Acids Research, 30:3894-3900.

  106. Jeff P Reeve, Bruce Rannala (2002), "DMLE+: Bayesian linkage disequilibrium gene mapping", Bioinformatics, 18:894-895.

  107. C Romualdi, DJ Balding, IS Nasidze, G Risch, M Robichaux, S Sherry, M Stoneking, MA Batzer, G Barbujani (2002), "Patterns of human diversity, within and among continents, inferred from biallelic DNA polymorphisms", Genome Research, 12:602-612.

  108. NA Rosenberg, M Nordborg (2002), "Genealogical trees, coalescent theory and the analysis of genetic polymorphisms", Nature Reviews Genetics, 3(5):380-390.
    [abstract]

  109. NA Rosenberg, JK Pritchard, JL Weber, HM Cann, KK Kidd, LA Zhivotovsky, MW Feldman (2002), "Genetic structure of human populations", Science, 298:2381-2385.
    [abstract] [PDF]

  110. BA Rybicki, SK Iyengar, T Harris, R Liptak, RC Elston, MJ Maliarik, MC Iannuzzi (2002), "Prospects of admixture linkage disequilibrium mapping in the African-American genome", Cytometry, 47(1):63-65.

  111. BA Rybicki, SK Iyengar, T Harris, R Liptak, RC Elston, R Sheffer, KM Chen, M Major, MJ Maliarik, MC Iannuzzi (2002), "The distribution of long range admixture linkage disequilibrium in an African-American population", Human Heredity, 53(4):187-196.

  112. C Sabatti, N Risch (2002), "Homozygosity and linkage disequilibrium", Genetics, 160(4):1707-1719.
    [PDF]

  113. JM Satagopan, DA Verbel, ES Venkatraman, ES Offit, CB Begg (2002), "Two-stage designs for gene-disease association studies", Biometrics, 58:163-170.

  114. DJ Schaid (2002), "Relative effeciency of ambiguous vs. directly measured haplotype frequencies", Genetic Epidemiology, 23(4):426-443.
    [abstract]

  115. DJ Schaid, CM Rowland, DE Tines, RM Jacobson, GA Poland (2002), "Score tests for association between traits and haplotypes when linkage phase is ambiguous", American Journal of Human Genetics, 70:425-434.
    [abstract]

  116. Nicholas J Schork (2002), "Power calculations for genetic association studies using estimated probability distributions", American Journal of Human Genetics, 70:1480-1489.
    [abstract]

  117. SR Seaman, S Richardson, I Stücker, S Benhamou (2002), "A Bayesian partition model for case-control studies on highly polymorphic candidate genes", Genetic Epidemiology, 22(4):356-368.

  118. Thomas G Schulze, Francis J McMahon (2002), "Genetic association mapping at the crossroads: which test and why? overview and practical guidelines", American Journal of Medical Genetics (Neuropsychiatric Genetics), 114:1-11.
    [PDF]

  119. RS Schwartz, AG Clark, S Istrail (2002), "Methods for inferring block-wise ancestral history from haploid sequences: The haplotype coloring problem", Workshop on Algorithms in Bioinformatics, pp.44-59

  120. P Sham, JS Bader, I Craig, M O'Donovan, M Owen (2002), "DNA pooling: a tool for large-scale association studies", Nature Reviews Genetics, 3(11):862-871.
    [PDF]

  121. TDT
    Mei-Chiung Shih, Alice S. Whittemore (2002), "Tests for genetic association using family data", Genetic Epidemiology, 22(2):128-145.

  122. K Shimo-onoda, T Tanaka , K Furushima , T Nakajima, S Toh, S Harata, K Yone, S Komiya, H Adachi, E Nakamura, H Fujimiya, I Inoue (2002), "Akaike's information criterion for a measure of linkage disequilibrium", Journal of Human Genetics, 47(12):649-655.
    [abstract]

  123. RM Single, D Meyer, JA Hollenbach, MP Nelson, JA Nobel, HA Erlich, G Thomson (2002), "Haplotype frequency estimation in patient populations: the effect of departures from Hardy-Weinberg proportions and collapsing over a locus in the HLA region", Genetic Epidemiology, 22(2):186-195.

  124. L Sun, NJ Cox, MS McPeek (2002), "A statistical method for identification of polymorphisms that explain a linkage result", American Journal of Human Genetics, 70(2):399-411.
    [abstract] [PDF]

  125. HK Tabor, NJ Risch, RM Myers (2002), "Candidate-gene approaches for studying complex genetic traits: practical considerations", Nature Reviews Genetics, 3:391-397.
    [abstract] [PDF]

  126. JD Terwilliger, F Haghighi, TS Hiekkalinna, HH Goring (2002), "A bias-ed assessment of the use of SNPs in human complex trait", Current Opinion in Genetics & Development, 12(6):726-734.
    [PDF]

  127. DC Thomas, JS Witte (2002), "Point: population stratification: a problem for case-control studies of candidate-gene associations?", Cancer Epidemiology Biomarkers & Prevention, 11(6):505-512.
    [PDF]

  128. L Tiret, O Poirier, V Nicaud, S Barbaux, SM Herrmann, C Perret, S Raoux, C Francomme, G Lebard, D Tregouet, F Cambien (2002), "Heterogeneity of linkage disequilibrium in human genes has implications for association studies of common diseases", Human Molecular Genetics, 11(4):419-429.
    [ abstract]

  129. Sarah A. Tishkoff, Scott M. Williams (2002), "Genetic analysis of African populations: human evolution and complex disease", Nature Reviews Genetics, 3:611-621.
    [abstract]

  130. D Trikka, Z Fang, A Renwick, SH Jones, R Chakraborty, M Kimmel, DL Nelson (2002), "Complex SNP-based haplotypes in three human helicases: implications for cancer association studies", Genome Research, 12(4):627-639.

  131. S Wacholder, N Rothman, N Caporaso (2002), "Counterpoint: bias from population stratification is not a major threat to the validity of conclusions from epidemiological studies of common polymorphisms and cancer", Cancer Epidemiology Biomarkers & Prevention, 11(6):513-520.

  132. N Wang, JM Akey, K Zhang, R Chakraborty, L Jin (2002), "Distribution of recombination crossovers and the origin of haplotype blocks: the interplay of population history, recombination, and mutation", American Journal of Human Genetics, 71:1227-1234.

  133. T Webb (2002), "SNPs: can genetic variants control cancer susceptibility?", Journal of National Cancer Institute, 94(7):476-478.

  134. MP Weiner, TJ Hudson (2002), "Introduction to SNPs: discovery of markers for disease", Biotechniques, 10(Suppl:4-7):12-13.

  135. population-structure
    BS Weir, WG Hill (2002), "Estimating F-statistics", Annual Review of Genetics, 36:721-750.

  136. Kenneth M Weiss, Andrew G Clark (2002), "Linkage disequilibrium and the mapping of complex human traits", Trends in Genetics, 18(1):19-24.

  137. TDT
    KM Wittkowski, X Liu (2002), "A statistically valid alternative to the TDT", Human Heredity, 54:157-164.

  138. quantitative-trait
    RL Wu, CX Ma, G Casella (2002), "Joint linkage and linkage disequilibrium mapping of quantitative trait loci in natural populations", Genetics, 160(2):779-792.

  139. quantitative-trait
    Momiao Xiong, Ruzong Fan, Li Jin (2002), "Linkage disequilibrium mapping of quantitative trait loci under truncation selection", Human Heredity, 53(3):158-172.

  140. Momiao Xiong, Jinying Zhao, Eric Boerwinkle (2002), "Generalized T2 test for genome association studies ", American Journal of Human Genetics, 70:1257-1268.
    [abstract]

  141. CF Xu, K Lewis, KL Cantone, P Khan, C Donnelly, N White, N Crocker, PR Boyd, DV Zaykin, IJ Purvis IJ (2002), "Effectiveness of computational methods in haplotype prediction", Human Genetics, 110(2):148-156.

  142. NB Zak, S Shifman, A Shalom, A Darvasi (2002), "Genetic dissection of common diseases", The Israel Medical Association Journal, 4(6):438-443.

  143. DV Zaykin, PH Westfall, SS Young, MA Karnoub, MJ Wagner, MG Ehm (2002), "Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals", Human Heredity, 53(2):79-91.

  144. K Zhang, P Calabrese, M Nordborg, F Sun (2002), "Haplotype block structure and its applications to association studies: power and study designs", American Journal of Human Genetics, 71(6):1386-1394.

  145. haplotype-block
    K Zhang, MH Deng, T Chen, MS Waterman, FZ Sun (2002), "A dynamic programming algorithm for haplotype block partitioning", Proceedings of National Academy of Sciences, 99:7335-7339.
    [ PDF] [ http://www-hto.usc.edu/~msms/HapBlock (supplementary materials from the authors)]

  146. S Zhang, K Kidd, H Zhao (2002), "Detecting genetic association in case-control studies using similarity-based association tests", Statistica Sinica, 12:337-359.

  147. Shuanglin Zhang, Hongyu Zhao (2002), "Linkage disequilibrium mapping with genotype data", Genetic Epidemiology, 22(1):66-77.

  148. S Zhang, K Zhang, J Li, H Zhao (2002), "On a family-based haplotype pattern mining method for linkage disequilirbium mapping", Pacific Symposium on Biocomputing, 7:100-111.

  149. quantitative-trait
    W Zhang, A Collins, GR Abecasis, LR Cardon, NE Morton (2002), "Mapping quantitative effects of oligogenes by allelic association", Annals of Human Genetics, 66(3):211-221.
    [abstract]

  150. haplotype-block
    W Zhang, A Collins, N Maniatis, W Tapper, NE Morton (2002) "Properties of linkage disequilibrium (LD) maps", Proceedings of National Academy of Sciences, 99:17004-17007.
    [PDF]

  151. JH Zhao, S Lissarrague, L Essioux, PC Sham (2002), "Gene-counting for haplotype analysis with missing genotypes", Bioinformatics, 18(12):1694-1695.
    [GENECOUNTING program]

  152. JH Zhao, PC Sham (2002), "Faster haplotype frequency estimation using unrelated subjects", Human Heredity, 53(1):36-41.
    [FASTEH+ program]

  153. Z Zhao, E Boerwinkle (2002), "Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome", Genome Research, 12:1679-1686.

  154. G Zheng, B Freidlin, JL Gastwirth (2002), "Robust TDT-type candidate-gene association tests", Annals of Human Genetics, 66(2):145-155.

  155. Krina T Zondervan, Lon R Cardon, Stephen H Kennedy (2002), "What makes a good case-control study? Design issues for complex traits such as endometriosis", Human Reproduction, 17(6):1415-1423.