Bibliography: Linkage Disequilibrium Analysis (2001)

2001

1. quantitative-trait

   GR Abecasis, LR Cardon, WO Cookson, PC Sham, SS Cherny (2001), "Association analysis in a variance components framework", Genetic Epidemiology, 21(suppl 1):S341-S346.

2. quantitative-trait

   GR Abecasis, SS Cherny, LR Cardon (2000), "The impact of genotyping error on linkage and association analysis of quantitative traits", European Journal of Human Genetics, 9:130-134.

3. quantitative-trait

   GR Abecasis, WO Cookson, LR Cardon (2001), "The power to detect linkage disequilibrium with quantitative traits in selected samples", American Journal of Human Genetics, 68:1463-1474.
   [PDF]

4. haplotype-block

   GR Abecasis, E Noguchi, A Heinzmann, JA Traherne, S Bhattacharyya, NI Leaves, GG Anderson, Y Zhang, NJ Lench, A Carey, LR Cardon, MF Moffatt, WO Cookson (2001), "Extent and distribution of linkage disequilibrium in three genomic regions", American Journal of Human Genetics, 68:191-197.

5. Joshua M Akey, Kun Zhang, Momiao Xiong, Peter Doris, and Li Jin (2001), "The effect that genotyping errors have on the robustness of common linkage-disequilibrium measures", American Journal of Human Genetics, 68:1447-1456.
   [PDF]

6. J Akey, L Jin, M Xiong (2001), "Haplotypes vs single marker linkage disequilibrium tests: what do we gain?" European Journal of Human Genetics, 9(4):291-300.
   [PDF]

7. quantitative-trait

   DB Allison, MC Neale (2001), "Joint tests of linkage and association for quantitative traits", Theoretical Population Biology, 60(3):239-251.

8. CI Amos, G Page (2001), "Cost of linkage versus association methods", in Genetic Dissection of Complex Traits eds. DC Rao, MA Province (Academic Press), pp.213-221.

9. Kristin Ardlie, Shau Neen Liu-Cordero, Michael A. Eberle, Mark Daly, Jeff Barrett, Ellen Winchester, Eric S Lander, Leonid Kruglyak (2001), "Lower-than-expected linkage disequilibrium between tightly linked markers in humans suggests a role for gene conversion", American Journal of Human Genetics, 69(3):582-589.

10. KL Ayres, DJ Balding (2001), "Measuring gametic disequilibrium from multilocus data", Genetics, 17:413-423.

11. IB Borecki, BK Suarez (2001), "Linkage and association: basic concepts", in Genetic Dissection of Complex Traits eds. DC Rao, MA Province (Academic Press), pp.45-66.

12. applications

    Paul R Buckland (2001), "Genetic association studies of alcoholism - problems with the candidate gene approach", Alcohol and Alcoholism, 36(2):99-103.
    [PDF]

13. SB Bull, GA Darlington, CMT. Greenwood, J Shin (2001), "Design considerations for association studies of candidate genes in families', Genetic Epidemiology, 20:149-174.

14. LR Cardon, JI Bell (2001), "Association study designs for complex diseases", Nature Reviews Genetics, 2(2):91-99.
    [abstract]

15. population-structure

    NH Chapman, EA Thompson (2001), "Linkage disequilibrium mapping: the role of population history, size, and structure", in Genetic Dissection of Complex Traits eds. DC Rao, MA Province (Academic Press), pp.413-437.

16. TDT

    WM Chen, HW Deng (2001), "A general and accurate approach for computing the statistical power of the transmission disequilibrium test for complex disease genes", Genetic Epidemiology, 21(1):53-67.

17. population-structure

    D Clayton (2001), "Population association", in Handbook of Statistical Genetics, eds. DJ Balding, C Cannings, M Bishop (John Wiley & Sons), pp. 519-540.
    [ online version in 2004]

18. David G Cox, Federico Canzian (2001), "Genotype transposer: automated genotype manipulation for linkage disequilibrium analysis", target=_ Bioinformatics, 17: 738-739.

19. applications

    NJ Cox (2001), "Challenges in identifying genetic variation affecting susceptibility to type 2 diabetes: examples from studies of the calpain-10 gene", Human Molecular Genetics, 10(20):2301-2305.
    [PDF]

20. NJ Cox (2001), "Computational issues in mapping variation affecting susceptibility to complex disorders: the chicken and the egg", Theoretical Population Biology, 60(3):221-225.
    [PDF]

21. haplotype-block

    M J Daly, J D Rioux, S F Schaffner, T J Hudson, E S Lander (2001), "High-resolution haplotype structure in the human genome", Nature Genetics, 29:229-232.

22. HW Deng, WM Chen, and RR Recker (2001), "Population admixture: detection by Hardy-Weinberg test and its quantitative effects on linkage-disequilibrium methods for localizing genes underlying complex traits", Genetics, 157(2):885-897.

23. quantitative-trait

    TDT

    Hong-Wen Deng, Jing Li, Robert R. Recker (2001), "Effect of polygenes on Xiongs transmission disequilibrium test of a QTL in nuclear families with multiple children", Genetic Epidemiology, 21(3):243-265.

24. population-structure

    B Devlin, Kathryn Roeder, Silviu-Alin Bacanu (2001), "Unbiased methods for population-based association studies", Genetic Epidemiology, 21(4):273-284.

25. JA Douglas, M Boehnke, E Gillanders, JM Trent, SB Gruber (2001), "Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies", Nature Genetics, 28(4):361-364.

26. TDT

    LJ Eaves, P Sullivan (2001), "Genotype-environment interaction in transmission disequilibrium tests", in Genetic Dissection of Complex Traits eds. DC Rao, MA Province (Academic Press), pp. 223-240.

27. I Eisenbarth, AM Striebel, E Moschgath, W Vogel, G Assum (2001), "Long-range sequence composition mirrors linkage disequilibrium pattern in a 1.13 Mb region of human chromosome 22", Human Molecular Genetics, 10:2833-2839.

28. Sarah Ennis, Nikolas Maniatis, Andrew Collins (2001), "Allelic association and disease mapping", Briefings in Bioinformatics, 2(4):375-387.

29. S Ennis, A Collins, W Tapper, A Murray, JN MacPherson, NE Morton (2001), "Allelic association discriminates draft orders", Annals of Human Genetics, 65:503-504.

30. applications

    population-structure

    MA Escamilla (2001), "Population isolates: their special value for locating genes for bipolar disorder", Bipolar Disorders, 3(6):299-317.

31. TDT

    WJ Ewens, RS Spielman (2001), "The transmission/disequilibrium test", in Handbook of Statistical Genetics, eds. DJ Balding, C Cannings, M Bishop (John Wiley & Sons), pp. 507-518.
    [ online version in 2004]

32. WJ Ewens, RS Spielman (2001), "Locating genes by linkage and association", Theoretical Population Biology, 60(3):135-139.

33. population-structure

    L Excoffier (2001), "Analysis of population subdivision", in Handbook of Statistical Genetics, eds. DJ Balding, C Cannings, M Bishop (John Wiley & Sons) pp. 271-308.
    [ online version in 2004 ]

34. Daniele Fallin, Annick Cohen, Laurent Essioux, Ilya Chumakov, Marta Blumenfeld, Daniel Cohen, Nicholas J Schork (2001), "Genetic analysis of case/control data using estimated haplotype frequencies: application to APOE locus variation and Alzheimer's disease", Genome Research, 11(1):143-151.

35. JC Fay, GJ Wyckoff, CI Wu (2001), "Positive and negative selection on the human genome", Genetics, 158:1227-1234.

36. P Fearnhead, P Donnelly (2001) "Estimating recombination rates from population genetic data", Genetics, 159:1299-1318.
    [PDF]

37. Seymour Garte, Laura Gaspari, Anna-Karin Alexandrie, Christine Ambrosone, Herman Autrup, Judith L. Autrup, Helena Baranova, Lise Bathum, Simone Benhamou, Paolo Boffetta, Christine Bouchardy, Katja Breskvar, Jurgen Brockmoller, Ingolf Cascorbi, Margie L. Clapper, Christiane Coutelle, Ann Daly, Marco Dell’Omo, Vita Dolzan, Carolyn M. Dresler, Anthony Fryer, Aage Haugen, David W. Hein, Allan Hildesheim, Ari Hirvonen, Ling-Ling Hsieh, Magnus Ingelman-Sundberg, Ivan Kalina, Daehee Kang, Masahiro Kihara, Chikako Kiyohara, Pierre Kremers, Philip Lazarus, Loïc Le Marchand, Maria Celeste Lechner, Ester M. M. van Lieshout, Stephanie London, Johannes J. Manni, Christine M. Maugard, Shunji Morita, Valle Nazar-Stewart, Kazumasa Noda, Yoshio Oda, Fritz F. Parl, Roberta Pastorelli, Irene Persson, Wilbert H. M. Peters, Agneta Rannug, Timothy Rebbeck, Angela Risch, Liliane Roelandt, Marjorie Romkes, David Ryberg, Jan Salagovic, Bernadette Schoket, Janeric Seidegard, Peter G. Shields, Edith Sim, Daniel Sinnet, Richard C. Strange, Isabel Stücker, Haruhiko Sugimura, Jordi To-Figueras, Paolo Vineis, Mimi C. Yu, Emanuela Taioli (2001), "Metabolic gene polymorphism frequencies in control populations", Cancer Epidemiology Biomarkers & Prevention, 10:1239-1248.

38. E Genin (2001), "Selection of single nucleotide polymorphisms for association studies in candidate genes", Genetic Epidemiology, 21(suppl 1):S614-S619.

39. DB Goldstein (2001), "Islands of linkage disequilibrium", Nature Genetics, 29:109-211.

40. DB Goldstein, ME Weale (2001), "Population genomics: linkage disequilibrium holds the key", Current Biology, 11(14):R576-R579.
    [PDF]

41. TDT

    D Gordon, SC Heath, X Liu, J Ott (2001), "A transmission/disequilibrium test that allows for genotyping errors in the analysis of single-nucleotide polymorphism data", American Journal of Human Genetics, 69(2):371-380.

42. D Gusfield (2001), "Inference of haplotypes from samples of diploid populations: complexity and algorithms", Journal of Computational Biology, 8(3):305-323.

43. C Hirotsu, S Aoki, T Inada, Y Kitao (2001), "An exact test for the association between the disease and alleles at highly polymorphic loci with particular interest in the haplotype analysis", Biometrics, 57:769-778.

44. J Hoh, A Wille, J Ott (2001), "Trimming, weighting, and grouping SNPs in human case-control association studies", Genome Research, 11:2115-2119.

45. TDT

    S Horvath, X Xu, NM Laird (2001), "The family based association test method: strategies for studying general genotype-phenotype associations." European Journal of Human Genetics, 9:301-306.

46. JJ Houwing-Duistermaat, RC Elston (2001), "Linkage disequilibrium mapping of complex genetic diseases using multiallelic markers", Genetic Epidemiology, 21(Suppl 1):S576-S581.

47. J Huang, YM Jiang (2001), "The score statistic of the LD-lod analysis: detecting linkage adaptive to linkage disequilibrium", Human Heredity, 52(2):83-98.

48. RR Hudson (2001), "Linkage disequilibrium and recombination", in Handbook of Statistical Genetics, eds. DJ Balding, C Cannings, M Bishop (John Wiley & Sons) pp.309-324.
    [ online version in 2004 ]

49. TDT

    MM Iles, C Cannings, EJ Pattison (2001), "Sequential genotyping for the TDT", Genetic Epidemiology, 21:158-159.

50. JPA Ioannidis, EE Ntzani, TA Trikalinos, DG Contopoulos-Ioannidis (2001), "Replication validity of genetic association", Nature Genetics, 29:306-309.

51. Alec Jeffreys, Liisa Kauppi, Rita Neumann (2001), "Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex", Nature Genetics, 29:217-222.

52. R Jiang, J Dong, D Wang, FZ Sun (2001), "Fine-scale mapping using Hardy-Weinberg disequilibrium", Annals of Human Genetics, 65:207-219.

53. haplotype-block

    Gillian Johnson, Laura Esposito, Bryan Barratt, Annabel Smith, Joanne Heward, Gianfranco DiGenova, Hironori Ueda, Heather Cordell, Iain Eaves, Frank Dudbridge, Rebecca Twells, Felicity Payne, Wil Hughes, Sarah Nutland, Helen Stevens, Phillipa Carr, Eva Tuomilehto-Wolf, Jaakko Tuomilehto, Stephen Gough, David Clayton, John Todd (2001), "Haplotype tagging for the identification of common disease genes", Nature Genetics, 29:233-237.

54. population-structure

    LB Jorde, WS Watkins, MJ Bamshad (2001), "Population genomics: a bridge from evolutionary history to genetic medicine", Human Molecular Genetics, 10:2199-2207.
    [abstract] [PDF]

55. ST Kalinowski, PW Hedrick (2001), "Estimation of linkage disequilibrium for loci with multiple alleles: basic approach and an application using data from boghorn sheep", Heredity, 87(6):698-708.

56. TDT

    Norman L Kaplan, Eden R Martin (2001), "Power calculations for a general class of tests of linkage and association that use nuclear families with affected and unaffected sibs", Theoretical Population Biology, 60(3):193-201.

57. Norman Kaplan, Richard Morris (2001), "Issues concerning association studies for fine mapping a susceptibility gene for a complex disease", Genetic Epidemiology, 20:432-457.

58. Norman Kaplan, Richard Morris (2001), "Prospects for association-based fine mapping of a susceptibility gene for a complex disease", Theoretical Population Biology, 60(3):181-191.

59. population-structure

    Juha Kere (2001), "Human population genetics: lessons from Finland", Annual Review of Genomics and Human Genetics, 2:103-128.
    [ PDF]

60. Michael Knapp (2001), "Reconstructing parental genotypes when testing for linkage in the presence of association", Theoretical Population Biology, 60(3):141-148.

61. IR Konig, H Scafer, HH Muller, A Ziegler (2001), "Optimized group sequential study designs for tests of genetic linkage and association in complex diseases", American Journal of Human Genetics, 69:590-600.

62. PY Kwok (2001), "Methods for genotyping single nucleotide polymorphisms", Annual Review of Genomics and Human Genetics, 2:235-258.

63. E Lai (2001), "Application of SNP technologies in medicine: lessons learned and future challenges", Genome Research, 11:927-929.

64. G Lancia, V Bafna, S Istrail, R Lippert, R Schwartz (2001), "SNP problems, complexity and algorithms", European Symposium on Algorithms, pp.182-193.

65. LC Lazzeroni (2001), "A chronology of fine-scale gene mapping by linkage disequilibrium", Statistical Methods in Medical Research, 10:57-76.

66. population-structure

    DF Levinson, A Kirby, S Slepner, I Nolte, GT Spijker, G te Meerman (2001), "Simulation studies of detection of a complex disease in a partially isolated population", American Journal of Medical Genetics, 105:65-70.

67. H Li (2001), "A permutation procedure for the haplotype method for identification of disease-predisposing variants", Annals of Human Genetics, 65:189-196.

68. quantitative-trait

    TDT

    JM Li, D Wang, JP Dong, RF Jiang, K Zhang, SL Zhang, HY Zhao, FZ Sun (2001), "The power of transmission disequilibrium tests for quantitative traits", Genetic Epidemiology, 21:S632-S637.

69. TDT

    Kung-Yee Liang, Fang-Chi Hsu, Terri H Beaty, Kathleen C Barnes (2001), "Multipoint linkage-disequilibrium mapping approach based on the case-parent trio design ", American Journal of Human Genetics, 68:937-950.
    [ PDF ]

70. J Liu, C Sabatti, J Teng, BJB Keats, N Risch (2001), "Bayesian analysis of haplotypes for linkage disequilibrium mapping," Genome Research, 11(10):1716-1724.
    [PDF] [BLADE program ]

71. Jeffrey A Longmate (2001), "Complexity and power in case-control association studies", American Journal of Human Genetics, 68:1229-1237.

72. ZW Luo, CI Wu (2001), "Modeling linkage disequilibrium between a polymorphic marker locus and a locus affecting complex dichotomous traits in natural populations", Genetics, 158:1785-1800
    [PDF]

73. quantitative-trait

    Trudy FC Mackay (2001), "The genetic architecture of quantitative traits", Annual Review of Genetics, 35:303-339.

74. Adrian Mander (2001), "Haplotype analysis in population-based association studies", Stata Journal, 1(1):58-75.

75. TDT

    Eden R Martin, Meredyth P Bass, Norman L Kaplan (2001), "Correcting for a potential bias in the pedigree disequilibrium test" (letter to the editor), American Journal of Human Genetics, 68:1065-1067.

76. RD Miller, PY Kwok (2001), "The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine", Human Molecular Genetics, 10:2195-2219.
    [PDF]

77. Oksana Mokliatchouk, Deborah Blacker, Daniel Rabinowitz (2001), "Association tests for traits with variable age at onset", Human Heredity, 51(1-2):46-53.

78. NE Morton, W Zhang, P Taillon-Miller, S Ennis, PY Kwok, A Collins (2001), "The optimal measure of allelic association", Proceedings of National Academy of Sciences, 98(9):5217-5221.
    [PDF]

79. JM Neiderhiser (2001), "Understanding the roles of genome and envirome: methods in genetic epidemiology", British Journal of Psychiatry, 178:s12-s17.
    [PDF]

80. quantitative-trait

    MR Nelson, SLR Kardia, RE Ferrell, CF Sing (2001), "A combinatorial partitioning method to identify multilocus genotypic partitions that predict quantitative trait variation", Genome Research, 11(3):458-470.
    [abstract]

81. DL Newman, M Abney, MS McPeek, C Ober, NJ Cox (2001), "The importance of genealogy in determining genetic associations with complex traits", American Journal of Human Genetics, 69(5):1146-1148.

82. Dahlia M Nielsen, BS Weir (2001), "Association studies under general disease models", Theoretical Population Biology, 60(3):253-263.

83. J Ohashi, K Tokunaga (2001), "Power of genome wide association studies of complex disease genes: statistical limitation of indirect approaches using SNP markers", Journal of Human Genetics, 46:478-482.

84. J Ohashi, S Yamamoto, N Tsuchiya, Y Hatta, T Komata, M Matsushita, K Tokunaga (2001), "Comparison of statistical power between 2x2 allele frequency and allele positivity tables in case-control studies of complex disease genes", Annals of Human Genetics, 65:197-206.

85. Harry Ostrer (2001), "A genetic profile of contemporary Jewish populations", Nature Reviews Genetics, 2:891-898.
    [abstract]

86. haplotype-block

    Nila Patil, Anthony J Berno, David A Hinds, Wade A Barrett, Jigna M Doshi, Coleen R Hacker, Curtis R Kautzer, Danny H Lee, Claire Marjoribanks, David P McDonough, Bich T N Nguyen, Michael C Norris, John B Sheehan, Naiping Shen, David Stern, Renee P Stokowski, Daryl J Thomas, Mark O Trulson, Kanan R Vyas, Kelly A Frazer, Stephen PA Fodor, David R Cox (2001), "Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21", Science, 294:1719-1723.
    [PDF] [ http://www.perlegen.com/haplotype/ (supplemetary materials from the authors)]

87. population-structure

    CL Pfaff, EJ Parra, C Bonilla, K Hiester, PM McKeigue, MI Kamboh, RG Hutchinson, RE Ferrell, E Boerwinkle, MD Shriver (2001), "Population structure in admixed populations: effect of admixture dynamics on the pattern of linkage disequilibrium", American Journal of Human Genetics, 68(1):198-207.

88. JK Pritchard, P Donnelly (2001), "Case-Control studies of association in structured or admixed populations ", Theoretical Population Biology, 60(3):215-220.
    [PDF(preprint form)]

89. population-structure

    JK Pritchard, M Przeworski (2001), "Linkage disequilibrium in humans: models and data", American Journal of Human Genetics, 69:1-14.
    [ PDF]

90. MA Province (2001), "Linkage and association with structural relationship", in Genetic Dissection of Complex Traits eds. DC Rao, MA Province (Academic Press), pp.183-190.

91. population-structure

    M Przeworski, JD Wall (2001), "Why is there so little intragenic linkage disequilibrium in humans?" Genetical Research, 77:143-151.
    [PDF]

92. B Rannala, JP Reeve (2001), "High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence ", American Journal of Human Genetics, 69:159-178.

93. haplotype-block

    David E Reich, Michele Cargill, Stacey Bolk, James Ireland, Pardis C Sabeti, Daniel Richter, Thomas Lavery, Rose Kouyoumjian, Shelli F Farhadian, Ryk Ward, Eric S Lander (2001), "Linkage disequilibrium in the human genome", Nature, 411:199-204.
    [ PDF ]

94. David E Reich, David B Goldstein (2001), "Detecting association in a case-control study while correcting for population stratification", Genetic Epidemiology, 20:4-16.

95. DE Reich, ES Lander (2001), "On the allelic spectrum of human diseases", Trends in Genetics, 17:502-510.

96. JH Relethford (2001), in Handbook of Statistical Genetics, eds. DJ Balding, C Cannings, M Bishop (John Wiley & Sons), pp. 813-840.

97. Randall H Rieger, Norman L Kaplan, Clarice R Weinberg (2001), "Efficient use of siblings in testing for linkage and association", Genetic Epidemiology, 20:175-191.

98. S Ripatti, J Pitkaniemi, MJ Sillanpaa (2001), "Joint modeling of genetic association and population stratification using latent class models", Genetic Epidemiology, 21(suppl 1):S409-S414.

99. N Risch (2001), "The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approaches", Cancer Epidemiology Biomarkers & Prevention, 10:733-741.

100. Neil Risch (2001), "Implications of multilocus inheritance for gene-disease association studies", Theoretical Population Biology, 60(3):215-220.

101. TDT

     James M Robins, Jordan W. Smoller, Kathryn L. Lunetta (2001), "On the validity of the TDT test in the presence of comorbidity and ascertainment bias", Genetic Epidemiology, 21(4):326-336.

102. K Rohde, R Fuerst (2001), "Haplotyping and estimation of haplotype frequencies for closely linked biallelic multilocus genetic phenotypes including nuclear family information", Human Mutation, 17(4):289-295.

103. C Sabatti, N Risch (2001), "Homozygosity and linkage disequilibrium," submitted.

104. applications

     Alan R Sanders, Pablo V Gejman (2001), "Influential ideas and experimental progress in Schizophrenia genetics research", JAMA, 285(22):2831-2833.

105. GA Satten, D Flanders, Q Yang (2001), "Accounting for unmeasured population substructure in case-control studies of genetic association using a novel latent-class model", American Journal of Human Genetics, 68:466-477.

106. NK Schork, D Fallin, B Thiel, X Xu, U Broeckel, HJ Jacob, D Cohen (2001), "The future of genetic case-control studies", in Genetic Dissection of Complex Traits eds. DC Rao, MA Province (Academic Press), pp.191-212.

107. population-structure

     CR Scriver (2001), "Human Genetics: lessons from Quebec populations", Annual Review of Genomics and Human Genetics, 2:69-101.
     [PDF ]

108. TDT

     Howard Seltman, Kathryn Roeder, B Devlin (2001), "Transmission/disequilibrium test meets measured haplotype analysis: family-based association analysis guided by evolution of haplotypes ", American Journal of Human Genetics, 68:1250-1263.
     [ET-TDT program]

109. population-structure

     SK Service, RA Ophoff, NB Freimer (2001), "The genome-wide distribution of background linkage disequilibrium in a population isolate", Human Molecular Genetics, 10:545-551.
     [PDF]

110. Petteri Sevon, Vesa Ollikainen, Paivi Onkamo, Hannu Toivonen, Heikki Mannila, Juha Kere (2001), "Mining associations between genetic markers, phenotypes and covariates", Genetic Epidemiology, 21(suppl 1):S588-S593.

111. Petteri Sevon, Hannu TT Toivonen, Vesa Ollikainen (2001), "TreeDT: gene mapping by tree disequilibrium test", The Seventh ACM SIGKDD International Conference on Knowledge Discovery and Data Mining (KDD-2001), pp. 365-370.

112. population-structure

     S Shifman, A Darvasi (2001), "The value of isolated populations" (comments), Nature Genetics, 28(4):309-310.

113. TDT

     Thomas G Schulze, Daniel J Müller, Harald Krauss, Magdalena Gross, Irina Bauer, Heiner Fangerau-Lefèvre, Franciska Ills, Stephanie Ohlraun, Rolf Fimmers, Sven Cichon, Tilo Held, Peter Propping, Markus M. Nöthen, Wolfgang Maier, Marcella Rietschel (2001), "Caught in the trio trap? Potential selection bias inherent to association studies usings parent-offspring trios", American Journal of Medical Genetics, 105:351-353.

114. P Sham (2001), "Shifting paradigms in gene-mapping methodology for complex traits", Pharmacogenomics, 2:195-202.

115. ST Sherry, M-H Ward, M Kholodov, J Baker, L Phan, EM Smigielski, K Sirotkin (2001), "dbSNP: the NCBI database of genetic variation", Nucleic Acids Research, 2991):308-311.

116. C Shoemaker, M Pungliya, M Sao Pedro, C Ruiz, SA Alvarez, M Ward, E Ryder, J Krushkal (2001), "Computational methods for single point and multipoint analysis of genetic variants associated with a simulated complex disorder in a general population", Genetic Epidemiology, 21(Suppl 1):S738-S745.

117. JS Sinsheimer, CA McKenzie, B Keavney, K Lange (2001), "SNPs and snails and puppy dogs' tails: analysis of SNP haplotype data using the gamete competition model" Annals of Human Genetics, 65:483-490.
     [PDF]

118. TDT

     SL Slager, J Huang, VJ Vieland (2001), "Power comparisons between the TDT and two likelihood-based methods", Genetic Epidemiology, 20:192-209.

119. SL Slager, DJ Schaid (2001), "Evaluation of candidate genes in case-control studies: a statistical method to account for related subjects", American Journal of Human Genetics, 68:1457-1462.
     [PDF]

120. SL Slager, DJ Schaid (2001), "Case-control studies of genetic markers: power and sample size approximations for Armitage's test for trend", Human Heredity, 52(3):149-153.

121. J Claiborne Stephens, Julie A Schneider, Debra A Tanguay, Julie Choi, Tara Acharya, Scott E Stanley, Ruhong Jiang, Chad J Messer, Anne Chew, Jin-Hua Han, Jicheng Duan, Janet L Carr, Min Seob Lee, Beena Koshy, A. Madan Kumar, Ge Zhang, William R Newell, Andreas Windemuth, Chuanbo Xu, Theodore S Kalbfleisch, Sandra L Shaner, Kevin Arnold, Vincent Schulz, Connie M Drysdale, Krishnan Nandabalan, Richard S Judson, Gualberto Ruaño, Gerald F Vovis (2001), "Haplotype variation and linkage disequilibrium in 313 human genes" Science, 293:489-493.
     [PDF]

122. M Stephens, N Smith, P Donnelly (2001), "A new statistical method for haplotype reconstruction from population data", American Journal of Human Genetics, 68:978-989.
     [PDF]

123. K Strimmer, C Wiuf, V Moulton (2001) "Recombination analysis using directed graphical models", Molecular Biology and Evolution, 18:97-99.

124. D Thomas, J Morrison, D Clayton (2001), "Bayes estimates of haplotype effects", Genetic Epidemiology, 21(suppl 1):S712-S717.

125. TDT

     DA Tregouet, C Pallaud, C Sass, S Visvikis, L Tiret (2001), "Sample size calculations for classical association and TDT-type methods using family data", Annals of Human Genetics, 65:293-312.

126. Zhen Wang, John Moult (2001), "SNPs, protein structure, and disease", Human Mutation, 17(4):263-270.

127. TDT

     JC Whittaker, AP Morris (2001), "Family-based tests of association and/or linkage", Annals of Human Genetics, 65:407-419.

128. TDT

     SR Wilson (2001), "Epistasis and its possible effects on transmission disequilibrium tests", Annals of Human Genetics, 65:565-575.

129. R Wu, ZB Zeng (2001), "Joint linkage and linkage disequilibrium mapping in natural populations", Genetics, 157: 899-909.
     [PDF]

130. Aong Yu, Chenfeng Zhao, Ying Fan, Wonhee Jang, Andrew J Mungall, Panos Deloukas, Anne Olsen, Norman A Doggett, Nader Ghebranious, Kari W Broman, James L Weber (2001), "Comparison of human genetic and sequence-based physical maps", Nature, 409:951-953.
     [PDF]

131. NB Zak, S Shifman, A Shalom, A Darvasi (2001), "Population-based gene discovery in the post-genomic era", Drug Discovery Today, 6:1111-1115.

132. C Zapata, C Carollo, S Rodriguez (2001), "Sampling variance and distribution of the D' measure of overall gametic disequilibrium between multiallelic loci", Annals of Human Genetics, 65:395-406.
     [2LD program]

133. S Zhang, A Pakstis, K Kidd, H Zhao (2001), "Comparisons of two methods for haplotype reconstruction and haplotype frequency estimation from population data" (letters to the editor), American Journal of Human Genetics, 69:906-912.
     [PDF]

134. quantitative-trait

     TDT

     SL Zhang, K Zhang, JM Li, FZ Sun, HY Zhao (2001), "Test of linkage and association for quantitative traits in general pedigrees: the quantitative pedigree disequilibrium test", Genetic Epidemiology, 21:S370-S375.

135. quantitative-trait

     S Zhang, H Zhao (2001), "Quantitative similarity-based association test using population samples", American Journal of Human Genetics,69:601-614.

136. quantitative-trait

     J Zhao, W Li, M Xiong (2001), "Population based linkage disequilibrium mapping of QTL: an application to simulated data in an isolated population", Genetic Epidemiology, 21 (Suppl 1):S655-S659.

137. quantitative-trait

     TDT

     Xiaofeng Zhu, Robert C Elston (2001), "Transmission/disequilibrium tests for quantitative traits", Genetic Epidemiology, 20:57-74.

138. quantitative-trait

     X Zhu, RC Elston, RS Cooper (2001), "Testing quantitative traits for association and linkage in the presence or absence of parental data", Human Heredity, 51(4):183-191.