References
- Aslaug, J., Thorlacius, T., Fossdal, R., Jonasdottir, A., Benediktsson, K., Benedikz, J., Jonsson, H. H., Sainz, J., Einarsdottir, H., Sigurdardottir, S., et al. (2003) A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers. J. Neuroimmunol. 143, 84-87. https://doi.org/10.1016/j.jneuroim.2003.08.017
- Bansal, A., van den Boom, D., Kammerer, S., Honisch, C., Adam, G. and Cantor, C. R. (2002) Association testing by DNA pooling: an effective initial screen. Proc. Natl. Acad. Sci. USA 99, 16871-16874. https://doi.org/10.1073/pnas.262671399
- Blangero, J., Williams, J. T. and Almasy, L. (2003) Novel familybased approaches to genetic risk in thrombosis. J. Thromb. Haemost. 1, 1391-1397. https://doi.org/10.1046/j.1538-7836.2003.00310.x
- Botstein, D. and Risch, N. (2003) Discovering genotypes underlying human phenotypes: past successes fro Mendelian disease, future approaches for complex disease. Nat. Genet. 33, 228-237. https://doi.org/10.1038/ng1090
- Botstein, D., White, R. L., Skolnick, M. H. and Davis, R.W. (1980) Construction of genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 32, 314-331.
- Braun, W. E. (1979) HLA and Disease, CRC, Florida, USA. Broman, K. W., Murray, J. C., Scheffield, V. C. and White R. L. (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63, 861-869. https://doi.org/10.1086/302011
- Broman, K. W., Murray, J. C., Scheffield, V. C. and White R. L. (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am, J. Hum. Genet. 63, 861-869. https://doi.org/10.1086/302011
- Broman, K. W. and Weber, J. L. (1998) Characterization of human crossover interference. Am. J. Hum. Genet. 63 (suppl.) A1632.
- Carlson, C. S., Eberle, M. A., Rieder, M. J., Smith, J. D., Kruglyak, L. and Nickerson, D. A. (2003) Additional SNPs and linkage-disequilibrium analyses are necessary for whole genome association studies in humans. Nat. Genet. 33, 518-521. https://doi.org/10.1038/ng1128
- Chaib, H., Place, C., Salem, N., Chardenoux, S., Vincent, C., Weissenbach, J., El-Zir, E., Loiselet, J. and Petit, C. (1996) A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. Hum. Mol. Genet. 5, 155-158. https://doi.org/10.1093/hmg/5.1.155
- Clark, A. G., Nielson, R., Signorovitch, J., Matise, T. C., Glanowski, S., Heil, J., Winn-Deen, E. S., Holden, A. L. and Lai, E. (2003) Linkage disequilibrium and influence of ancestral recombination in 538 single nucleotide polymorphism clusters across the human genome. Am. J. Hum. Genet. 73, 285-300. https://doi.org/10.1086/377138
- Collins, A., Frezal, J., Teague, J. and Morton, N.E. (1996) A metric map of humans: 23,500 loci in 850 bands. Proc. Natl. Acad. Sci. USA 93, 14771-14775. https://doi.org/10.1073/pnas.93.25.14771
- Daly, M. J., Rioux, J. D., Schaffner, S. F., Hudson, T. J. and Lander, E. S. (2001) High resolution haplotype structure in the human genome. Nat. Genet. 29, 217-222. https://doi.org/10.1038/ng1001-217
- Dausset, J., Cann, H., Cohen, D., Lanthrop, M., Lalouel, J. M. and White, R. (1990) Centre d'Etude du polymorphisme humaine (CEPH): collaborative genetic mapping of the human genome. Genomics 6, 575-577. https://doi.org/10.1016/0888-7543(90)90491-C
- Davies, J. L., Kawaguchi, Y., Bennett, S. T., Copeman, J. B., Cordell, H. J., Pritchard, L. E., Reed, P. W., Gough, S. C., Jenkins, S. C., and Palmer, S. M. (1994) A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371, 130-136. https://doi.org/10.1038/371130a0
- Dawson, E., Abecasis, G. R., Bumpstead, S., Chen, Y., Hunt, S., Beare, D. M., Pabial, J., Dibling, T., Tinsley, E., Kirby, S., et al. (2003) A first generation linkage disequilibrium map of human chromosome 22. Nature 418, 544-548.
- De La Vega, F. M., Dailey, D., Ziegle, J., Williams, J., Madden, D. and Gilbert, D. A. (2002) New generation pharmacogenomic tools: a SNP linkage disequilibrium map, validated SNP assay resource, and high-throughput instrumentation system for large-scale genetic studies. BioTechniques Suppl, 48-54.
- Elston, R. C. and Stewart, J. (1971) A general model for the analysis of pedigree data. Hum. Hered. 21, 523-542. https://doi.org/10.1159/000152448
- Enattah, N. S., Sahi, T., Savilahti, E., Terwilliger, J. D., Peltonen, L. and Jarvela, I. (2002) Identification of a variant associated with adult-type hypolactasia. Nat. Genet. 30, 233-237. https://doi.org/10.1038/ng826
- Faham, M., Baharloo, S., Tomitaka, S., DeYoung, J. and Freimer, N. B. (2001) Mismatch repair detection (MRD): highthroughput scanning for DNA variations. Hum. Mol. Genet. 10, 1657-1664. https://doi.org/10.1093/hmg/10.16.1657
- Fearnhead, P. and Donelly, P. (2001) Estimating recombination rates from population genetic data. Genetics 159, 1299-1318.
- Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) The structure of haplotype blocks in the human genome. Science 296, 2225-2229. https://doi.org/10.1126/science.1069424
- Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Yang, H., Ch'ang, L. Y., Huang, W., Liu, B., Shen, Y., et al. (2004) The international HapMap project. Nature 426, 789-796.
- Gillanders, E., Hank Juo, S. H., Holland, E. A., Jones, M., Nancarrow, D., Freas-Lutz, D., Sood, R., Park, N., Faruque, M., Markey, C., et al. (2003) Localization of a novel melanoma susceptibility locus to 1p22. Am. J. Hum.Genet. 73, 301-313. https://doi.org/10.1086/377140
- Goddard, K. A. B., Hopkins, P. J., Hall, J. M., Witte J. S. (2000) Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations. Am. J. Hum. Genet. 66, 216-234. https://doi.org/10.1086/302727
- Goldstein, D. B. (2001) Islands of linkage disequilibrium. Nat. Genet. 29, 109-111. https://doi.org/10.1038/ng1001-109
- Goldstein, D. B., Kourosh, R. A., Mike, E. W. and Nicholas, W. W. (2003) Genome scans and candidate gene approaches in the study of common diseases and variable drug responses. Trends Genet. 19, 615-622. https://doi.org/10.1016/j.tig.2003.09.006
- Guilford, P., Ben Arab, S., Blanchard, S., Levilliers, J., Weissenbach, J., Belkahia, A. and Petit, C. (1994) A nonsyndromic form of neurosensory, recessive deafness maps to pericentromic region of chromosome 13q. Nat. Genet. 6, 24-28. https://doi.org/10.1038/ng0194-24
- Gusella, J. F., Wexler, N. S., Conneally, P. M., Naylor, K., Wallace, M. C., Sakaguchi, A. Y., Young, A. B., Shoulson, I., Bonilla, E. and Martin, J. B. (1983) A polymorphic DNA marker genetically linked to Huntingtons disease. Nature 306, 234-238. https://doi.org/10.1038/306234a0
- Hakonarson, H., Bjornsdottir, U. S., Halapi, E., Palsson, S., Adalsteinsdottir, E., Gislason, D., Finnbogason, G., Gislason, T., Kristjansson, K., Arnason, T., Birkisson, I., Frigge, M. L., Kong, A., Gulcher, J. R. and Stefansson, K. (2002) A major susceptibility gene for asthma maps to chromosome 14q24. Am. J. Hum. Genet. 71, 483-491. https://doi.org/10.1086/342205
- Hall, J. M., Lee, M. K., Newman, B., Morrow, J. E., Anderson, L. A., Huey, B. and King, M. C. (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250, 1684-1689. https://doi.org/10.1126/science.2270482
- Hardenbol, P., Jain, M., Namsaraev, E. A. Karlin-Neumann, G. A. Fakhrai-Rad, H. Ronaghi, M., Willis, T. and Davis, R.W. (2003) Highly multiplexed genotyping with molecular inversion probes. Nat. Biotech. 21, 673-678. https://doi.org/10.1038/nbt821
- Hastbacka, J., de la Chapelle, A., Kaitila, I., Sistonen, P., Weaver, A. and Lander, E. (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat. Genet. 2, 204-211. https://doi.org/10.1038/ng1192-204
- Houwen, R. H. J., Baharloo, S., Blankenship, K., Raeymaekers, P., Juyn, J., Sandkuijl, L. A. and Freimer, N. B. (1994) Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat. Genet. 8, 380-386. https://doi.org/10.1038/ng1294-380
- Ivinson, A. J., Read, A. P., Harris, R., Super, M., Schwarz, M., Claton Smith, J. and Elles, R. (1989) Testing for cystic fibrosis using allelic association. J. Med. Genet. 26, 426-430. https://doi.org/10.1136/jmg.26.7.426
- Jeffreys, A. J., Kauppi, L. and Neumann, R. (2001) Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat. Genet. 29, 217-222. https://doi.org/10.1038/ng1001-217
- Jeffreys, A. J., Wilson, V. and Thein, S. L. (1985) Hypervariable minisatellite regions in human DNA. Nature 314, 67-73. https://doi.org/10.1038/314067a0
- Jeunemaitre, X., Soubrier, F., Kotelevtsev, Y. V., Lifton, R. P., Williams, C. S., Charru, A., Hunt, S. C., Hopkins, P. N., Williams, R. R. and Lalouel, J. M. (1992) Molecular basis of human hypertension: role of angiotensinogen. Cell 71, 169-180. https://doi.org/10.1016/0092-8674(92)90275-H
- Johnson, G. C., Esposito, L., Barratt, B. J., Smith, A. N., Heward, J., Di Genova, G., Ueda, H., Cordell, H. J., Eaves, I. A., Dudbridge, F., et al. (2001) Haplotype tagging for the identification of common disease genes. Nat. Genet. 29, 233-237. https://doi.org/10.1038/ng1001-233
- Joslyn, G., Carlson, M., Thliveris, A., Albertsen, H., Gelbert, L., Samowitz, W., Groden, J., Stevens, J., Spirio, L. and Robertson, M. (1991) Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 66, 601-613. https://doi.org/10.1016/0092-8674(81)90022-2
- Jurinke, C., Van Den Boom, D., Cantor, C. R. and Koster, H. (2002) The use of MassARRAY technology for high throughput genotyping. Adv. Biochem. Eng. Biotechnol. 77, 57-74.
- Kash, S. F., Johnson, R. S., Tecott, L. H., Noebels, J. L., Mayfield, R. D., Hanahan, D. and Baekkeskov. S. (1997) Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase. Proc. Natl. Acad. Sci. USA 14060-14065.
- Kehoe, P., Wavrant-de Vrieze, F., Cook, R., Wu, W. S., Holmans, P., Fenton, I., Spurlock, G., Norton, N., Williams, H., Williams, N., et al. (1999) A full genome scan for late-onset Alzheimer disease. Hum. Mol. Genet. 8, 237-246. https://doi.org/10.1093/hmg/8.2.237
- Kennedy, G. C., Matsuzaki, H., Dong, S., Liu, W. M., Huang, J., Liu, G., Su, X., Cao, M., Chen, W., Zhang, J., et al. (2003) Large-scale genotyping of complex DNA. Nat. Biotechnol. 21, 1233-1237. https://doi.org/10.1038/nbt869
- Kerem, B., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M. and Tsui, L. C. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245, 1073-1080. https://doi.org/10.1126/science.2570460
- Kidd, J. R., Pakstis, A. J., Zhao, H., Lu, R. B., Okonofua, F. E., Odunsi, A., Grigorenko, E., Tamir, B. B., Friedlaender, J., Schulz, L. O., Parnas, J. and Kidd, K. K. (2000) Haplotype and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am. J. Hum. Genet. 66, 1882-1899. https://doi.org/10.1086/302952
- Kim, U.-K., Jorgenson, E., Coon, H., Leppert, M., Risch, N. and Drayna, D. (2003) Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. Science 299, 1221. https://doi.org/10.1126/science.1080190
- Klein, C., Vieregge, P., Hagenah, J., Sieberer, M., Doyle, E., Jacobs, H., Gasser, T., Breakefield, X. O., Risch, N. J. and Ozelius, L. J. (1999) Search for the PARK3 founder haplotype in a large cohort of patients with Parkinsons disease from northern Germany. Ann. Hum. Genet. 63, 285-291. https://doi.org/10.1046/j.1469-1809.1999.6340285.x
- Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C. and Kunkel, L. M. (1987) Complete cloning of the Duchenne muscular dystrophy (DMD): cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50, 509-517. https://doi.org/10.1016/0092-8674(87)90504-6
- Kong, A. and Cox, N. J. (1997) Allele-sharing models: LOD scores and accurate linkage tests. Am. J. Hum. Genet. 61, 1179-1188. https://doi.org/10.1086/301592
- Kruglyak, L. (1999) Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat. Genet. 22, 139-144. https://doi.org/10.1038/9642
- Kruglyak, L., Daly, M. J., Reeve-Daly, M. P. and Lander, E. S. (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 58, 1347-1363.
- Kruglyak, L. and Lander, E. S. (1995) Complete multipoint sibpair analysis of qualitative and quantitative traits. Am. J. Hum. Genet. 57, 439-454.
- Kruglyak, L. and Nickerson, D.A. (2001) Variety is the spice of life. Nat. Genet. 27, 234-236. https://doi.org/10.1038/85776
- Lander, E. S. and Botstein, D. (1986) Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map. Cold Spring Harb. Symp. Quant. Biol. 51, 49-62. https://doi.org/10.1101/SQB.1986.051.01.007
- Lander, E. S. and Botstein, D. (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570. https://doi.org/10.1126/science.2884728
- Lander, E. S. and Green, P. (1987) Construction of multilocus genetic maps in humans. Proc. Natl. Acad. Sci. USA 84, 2363-2367. https://doi.org/10.1073/pnas.84.8.2363
- Lander, E. S. and Kruglyak, L. (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11, 241-247. https://doi.org/10.1038/ng1195-241
- Lander, E. S. and Schork, N. J. (1994) Genetic dissection of complex traits. Science 265, 2037-2048. https://doi.org/10.1126/science.8091226
- Lanthrop, G. M., Lalouel, J. M., Julier, C. and Ott, J. (1984) Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81, 3443-3446. https://doi.org/10.1073/pnas.81.11.3443
- LeGuern, E., Guilbot, A., Kessali, M., Ravise, N., Tassin, J., Maisonobe, T., Grid, D. and Brice, A. (1996) Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum. Mol. Genet. 5, 1685-1688. https://doi.org/10.1093/hmg/5.10.1685
- Lifton, R. P., Gharavi, A. G. and Geller, D. S. (2001) Molecular mechanisms of human hypertension. Cell 104, 545-556. https://doi.org/10.1016/S0092-8674(01)00241-0
- Lu, X., Niu, T. and Liu, J. S. (2003) Haplotype information and linkage disequilibrium mapping for single nucleotide polymorphisms. Genome Res. 13, 2112-2117. https://doi.org/10.1101/gr.586803
- Mackay, T. F. C. (2001) The genetic architecture of quantitative traits. Ann. Rev. Genet. 35, 303-339. https://doi.org/10.1146/annurev.genet.35.102401.090633
- Mani, A., Meraji, S. M., Houshyar, R., Radhakrishnan, J., Mani, A., Ahangar, M., Rezaie, T. M., Taghavinejad, M. A., Broumand, B., Zhao, H., Nelson-Williams, C. and Lifton, R. P. (2002) Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus. Proc. Natl. Acad. Sci. USA 99, 15054-15059. https://doi.org/10.1073/pnas.192582999
- Marnellos, G. (2003) High-throughput SNP analysis for genetic association studies. Curr. Opin. Drug Discov. Devel. 6, 317-321.
- McPeek, M. S. and Strahs, A. (1999) Assessment of linkage disequilibrium by the decay of haplotype sharing with application to fine-scale mapping. Am. J. Hum. Genet. 65, 858-875. https://doi.org/10.1086/302537
- Merriman, T., Twells, R., Merriman, M., Eaves, I., Cox, R., Cucca, F., McKinney, P., Shield, J., Baum, D., Bosi, E., et al. (1997) Evidence by allelic association methods for a type 1 diabetes polygene (IddM6) on chromosome 18q21. Hum. Mol. Genet. 6, 1003-1010. https://doi.org/10.1093/hmg/6.7.1003
- Mohlke, K. L., Erdos, M. R., Scott, L. J., Fingerlin, T. E., Jackson, A. U., Silander, K., Hollstein, P., Boehnke, M. and Collins, F. (2002) High-throughput screening for evidence of using mass spectrometry genotyping on DNA pools. Proc. Natl. Acad. Sci. USA 99, 16928-16933. https://doi.org/10.1073/pnas.262661399
- Morton, N. E., Lindstein, J., Iselius, L. and Yee, S. (1982) Data and theory for a revised chiasma map of man. Hum. Genet. 62, 266-270. https://doi.org/10.1007/BF00333534
- Morton, N. E. (1955) Sequential tests for the detection of linkage. Am. J. Hum. Genet. 7, 277-318.
- Oliphant, A., Barker, D. L., Stuelpnagel, J. R. and Chee, M. S. (2002) BeadArray technology: enabling an accurate, costeffective approach to high-throughput genotyping. BioTchniques Suppl. 56-61.
- Ott, J. (1999) Analysis of Human Genetic Linkage, 3rd ed., Johns Hopkins University Press, Baltimore, MD, USA.
- Ozelius, L. J., Kramer, P. L., de Leon, D., Risch, N., Bressman, S. B., Schuback, D. E., Brin, M. F., Kwiatkowski, D. J., Burke, R. E. and Gusella, J. F. (1992) Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am. J. Hum. Genet. 50, 619-628.
- Patil, N., Berno, A. J., Hinds, D. A., Barrett, W. A., Doshi, J. M., Hacker, C. R., Kautzer, C. R., Lee, D. H., Marjoribanks, C., McDonough, D. P., et al. (2001) Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science, 294, 1719-1723. https://doi.org/10.1126/science.1065573
- Pericak-Vance, M. A., Bebout, J. L., Gaskell, P. C. Jr., Yamaoka, L. H., Hung, W. Y., Alberts, M. J., Walker, A. P., Bartlett, R. J., Haynes, C. A. and Welsh, K. A. (1991) Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am. J. Hum. Genet. 48, 1034-1050.
- Phillips, M. S., Lawrence, R., Sachidanandam, R., Morris, A. P., Balding, D. J., Donaldson, M. A., Studebaker, J. F., Ankener, W. M., Alfisi, S. V. and Kuo, F. S. (2003) Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nat. Genet. 33, 382-387. https://doi.org/10.1038/ng1100
- Reeders, S. T., Breuning, M. H., Davies, K. E., Nicolls, R. D., Jarman, A. P., Higgs, D. R., Pearson, P. L. and Weatherall, D. J. (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317, 542-544. https://doi.org/10.1038/317542a0
- Reich, D. E., Schaffner, S. F., Daly, M. J., McVean, G., Mullikin, J. C., Higgins, J. M., Richter, D. J., Lander, E. S. and Altshuler, D. (2002) Human genome sequence variation and the influence of gene history, mutation and recombination. Nat. Genet. 32, 135-142. https://doi.org/10.1038/ng947
- Ronaghi, M., Uhlén, M. and Nyrén, P. (1998) A sequencing method based on real-time pyrophosphate. Science 281, 363-365. https://doi.org/10.1126/science.281.5375.363
- Rosenberg, N. A., Pritchard, J. K., Weber, J. L., Cann, H. M., Kidd, K. K., Zhivotovsky, L. A. and Feldman, M. W. (2002) Genetic structure of human populations. Science 298, 2381-2385. https://doi.org/10.1126/science.1078311
- Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T. and Orkin, S. H. (1986) Cloning of the gene for an inherited human disorder - chronic graulmatous disease - on the basis of its chromosomal location. Nature 322, 32-38. https://doi.org/10.1038/322032a0
- Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., Marth, G., Sherry, S., Mullikin, J. C., Mortimore, B. J., Willey, D. L., et al. (2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409, 928-933. https://doi.org/10.1038/35057149
- Sawcer, S., Goodfellow, P. N. and Compston, A. (1997) The genetic analysis of multiple sclerosis. Trends Genet. 13, 234-239. https://doi.org/10.1016/S0168-9525(97)01140-2
- Schaid, D. J. (1998) Transmission disequilibrium, family controls and great expectations. Am. J. Hum. Genet. 63, 935-941. https://doi.org/10.1086/302077
- Schwartz, R., Halldorsson, B. V., Bafna, V., Clark, A. G. and Istrail, S. (2003) Robustness of inference of haplotype block structure. J. Comput. Biol. 10, 13-19. https://doi.org/10.1089/106652703763255642
- Sham, S. and Zhao, J. (1998) Linkage analysis using affected sib pairs; in Guide to Human Genome Computing, 2nd ed., Bishop, M. J. (ed.) Academic Press, London.
- Sherrington, R., Brynjolfsson, J., Petursson, H., Potter, M., Dudleston, K., Barraclough, B., Wasmuth, J., Dobbs, M. and Gurling, H. (1988) Localization of a susceptibility locus for schizophrenia on chromosome 5. Nature 336, 164-167. https://doi.org/10.1038/336164a0
- Shin, H. D., Park, B. L., Kim, L. H., Jung, J. H., Wang, H. J., Kim, Y. J., Park, H. S., Hong, S. J., Choi, B. W., Kim, D. J. and Park, C. S. (2003) Association of tumor necrosis factor (TNF) polymorphisms with asthma and serum total IgE. Hum. Mol. Genet. 10.1093/hmg/ddh036.
- Stansbury, J. B., Wyngaarden, D. S., Fredrickson, J. L., Goldstein, J. L. and Brown, M. S. (1983) The Metabolic Basis of Inherited Disease. McGraw Hill, New York, USA.
- Stanssens, P., Zabeau, M., Meersseman, G., Remes, G., Gansemans, Y., Storm, N., Hartmer, R., Honisch, C., Rodi, C. P., Bocker S. and Van Den Boom, D. (2004) High-throughput MALDI-TOF discovery of genomic sequence polymorphisms. Genome Res. 14, 134-141.
- Stefansson, H., Sigurdsson, E., Steinthorsdottir, V., Bjornsdottir, S., Sigmundsson, T., Ghosh, S., Brynjolfsson, J., Gunnarsdottir, S., Ivarsson, O., Chou, T. T., Hjaltason, O., Birgisdottir, B., Jonsson, H., Gudnadottir, V. G., Gudmundsdottir, E., Bjornsson, A., Ingvarsson, B., Ingason, A., Sigfusson, S., Hardardottir, H., Harvey, R. P., Lai, D., Zhou, M., Brunner, D., Mutel, V., Gonzalo, A., Lemke, G., Sainz, J., Johannesson, G., Andresson, T., Gudbjartsson, D., Manolescu, A., Frigge, M. L., Gurney, M. E., Kong, A., Gulcher, J. R., Petursson, H. and Stefansson, K. (2002) Neuregulin 1 and Suseptibility to schizophrenia. Am. J. Hum. Genet. 71, 877-892. https://doi.org/10.1086/342734
- Stefansson, S. E., Jonsson, H., Ingvarsson, T., Manolescu, I., Jonsson, H. H., Olafsdottir, G., Palsdottir, E., Stefansdottir, G., Sveinbjornsdottir, G., Frigge, M. L., Kong, A., Gulcher, J. R. and Stefansson, K. (2003) Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. Am. J. Hum. Genet. 72, 1448-1459. https://doi.org/10.1086/375556
- Strachan, T. and Read, A. P. (1999) Human Molecular Genetics, 2nd ed., John Wiley & Sons, New York, USA.
- Stumpf, M. P. and Goldstein, D. B. (2003) Demography, recombination hotspot intensity, and the block structure of linkage disequilibrium. Curr. Biol. 13, 1-8. https://doi.org/10.1016/S0960-9822(02)01404-5
- Styrkarsdottir, U., Cazier, J. B., Kong, A., Rolfsson, O., Larsen, H., Bjarnadottir, E., Johannsdottir, V. D., Sigurdardottir, M. S., Bagger, Y., Christiansen, C., Reynisdottir, I., Grant, S. F., Jonasson, K., Frigge, M. L., Gulcher, J. R., Sigurdsson, G. and Stefansson, K. (2003) Linkage of Osteoporosis to Chromosome 20p12 and Association to BMP2. PLoS Biol 1, E69.
- Taillon-Miller, P., Bauer-Sardina, I., Saccone, N. L., Putzel, J., Laitinen, T., Cao, A., Kere, J., Pilia, G., Rice, J. P. and Kwok, P. Y. (2000) Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat. Genet. 25, 324-328. https://doi.org/10.1038/77100
- Terwillinger, J. D. and Ott, J. (1992) A multisample bootstrap approach to the estimation of maximized-over-models lod score distributions. Cytogenet. Cell Genet. 59, 142-144. https://doi.org/10.1159/000133228
- van den Bree, M. B. and Owen, M. J. (2003) The future of psychiatric genetics. Ann. Med. 35, 122-134. https://doi.org/10.1080/07853890310010023
- Varon, R., Vissinga, C., Platzer, M., Cerosaletti, K. M., Chrzanowska, K. H., Saar, K., Beckmann, G., Seemanova, E., Cooper, P. R., Nowak, N. J., et .al. (1998) Nibrin, a novel DNA double-stranded break repair protein, is mutated in Nijmegen Breakage Syndrome. Cell 93, 467-476. https://doi.org/10.1016/S0092-8674(00)81174-5
- Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) The sequence of the human genome. Science 291, 1304-1351. https://doi.org/10.1126/science.1058040
- Wall, J. D. and Pritchard, J. K. (2003) Haplotype blocks and linkage disequilibrium in the human genome. Nat. Rev. Genet. 4, 587-597. https://doi.org/10.1038/nrg1123
- Wang, D. G., Fan, J. B., Siao, C. J., Berno, A., Young, P., Sapolsky, R., Ghandour, G., Perkins, N., Winchester, E., Spencer, J., et al. (1998) Large scale identification, mapping and genotyping of single nucleotide polymorphisms in the human genome. Science 280, 1077-1082. https://doi.org/10.1126/science.280.5366.1077
- Weber, J. L. and May, P. E. (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44, 388-396.
- Weeks, D. E., Lehner, T., Squires-Wheeler, E., Kaufmann, C. and Ott, J. (1990) Localization of a susceptibility locus for schizophrenia on chromosome 5. Genet. Epidemiol. 7, 237-243. https://doi.org/10.1002/gepi.1370070402
- Wilson, A. F. and Sorant, A. J. (2000) Equivalence of single- and multi-locus markers: power to detect linkage with composite markers derived from biallelic loci. Am. J. Hum. Genet. 66, 1610-1615. https://doi.org/10.1086/302889
- Wooster, R., Neuhausen, S. L., Mangion, J., Quirk, Y., Ford, D., Collins, N., Nguyen, K., Seal, S., Tran, T. and Averill, D. (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265, 2088-2090. https://doi.org/10.1126/science.8091231
- Xiong, M. and Guo, S.-W. (1997) Fine-scale genetic mapping based on linkage disequilibrium: theory and applications. Am. J. Hum. Genet. 60, 1513-1531. https://doi.org/10.1086/515475
- Yang, Y., Zhang, J., Hon, J., Matsuda, F., Xu, p., Lanthrop, M. and Ott, J. (2003) Efficiency of single-nucleotide polymorphism haplotype estimation from pooled DNA. Proc. Natl. Acad. Sci. USA 100, 7225-7230. https://doi.org/10.1073/pnas.1237858100
- Zhang, K., Akey, J. M., Wang, N., Xiong, M., Chakraborty, R. and Jin, L. (2003) Randomly distributed crossovers may generate block-like patterns of linkage disequilibrium: an act of genetic drift. Hum. Genet. 113, 51-59.
- Zhang, K., Calabrese, P., Nordborg, M. and Sun, F. (2002) Haplotype block structure and its applications to association studies: power and study designs. Am. J. Hum. Genet. 71, 1386-1394. https://doi.org/10.1086/344780
- Zhang, K., Deng, M., Chen, T., Waterman, M. S. and Sun, F. (2002) A dynamic programming algorithm for haplotype block partitioning. Proc. Natl. Acad. Sci. USA 99, 7335-7339. https://doi.org/10.1073/pnas.102186799
- Zhang, K. and Jin, L. (2003) HaploBlockFinder: haplotype block analyses. Bioinformatics 19, 1300-1301. https://doi.org/10.1093/bioinformatics/btg142
- Zhang, K., Sun, F., Waterman, M. S. and Chen, T. (2003) Haplotype block partition with limited resources and applications to human chromosome 21 haplotype data. Am. J. Hum. Genet. 73, 63-73. https://doi.org/10.1086/376437
- Zhang, W., Collins, A., Maniatis, N., Tapper, W. and Morton, N. E. (2002) Properties of linkage disequilibrium (LD) maps. Proc. Natl. Acad. Sci. USA 99, 17004-17007. https://doi.org/10.1073/pnas.012672899
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