Abstract
Knowing the location of human disease genes is a first step towards a characterization of the gene, and an eventual understanding of the nature of the defect and the development of therapies or even cures. This process is necessarily within the realm of molecular genetics, but there does seem to be a role for a statistician in at least the early stages of a search. This role is generally centered on an examination of the joint behavior of the disease and a series of marker loci, either within families or within populations.
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Estivill, X., Farrall, M., Scambler, P.J., Bell, G.M., Hawley, K.M.F., Lench, N., Bates, G.P., Kruyer, H.C., Frederick, P.A., Stanier, P., Watson, E.K., Williamson, R., and Wainwright, B.J., 1987, A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands, Nature 326:840.
Estivill, X., Farrall, M., Williamson, R., Ferrari, M., Seia, M., Giunta, A.M., Novelli, G., Poenza, L., Dallapicolla, B., Borgo, G., Gasparinin, P., Pignatti, P.F., De Beneditti, L., Vitale, E., Devoto, M., and Romeo, G., 1988, Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study, Am. J. Human Genet. 43:23.
Hästbacka, J., de la Chappelle, A., Kaitila, I., Sistonen, P., Weaver, A., and Lander, E., 1992, Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland, Nature Genet. 2:204.
Hill, W.G., and Weir, B.S., 1988, Variances and covariances of squared linkage disequilibria in finite populations, Theor. Pop. Biol. 33:54.
Hill, W.G., and Weir, B.S., 1994, Maximum-likelihood estimation of gene location by linkage disequilibrium, Am. J. Human Genet. 54:705.
Kaplan, N.L., Hill, W.G., and Weir, B.S., 1995, Likelihood methods for locating disease genes in nonequilibrium populations, Am. J. Human Genet. 56:18.
Kaplan, N.L., Martin, E.R., and Weir, B.S., 1997, Power studies for the Transmission/Disequilibrium tests with multiple alleles, Am. J. Human Genet. 60:691.
Kaplan, NX., and Weir, B.S., 1995, Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population. Am. J. Human Genet. 57:1486.
Martin, E.R., Kaplan, N.L., and Weir, B.S., 1997, Tests for linkage and association in nuclear families, Am. J. Human Genet. 61:439.
Monks, S.A., Kaplan, N.L., and Weir, B.S., 1998, A comparative study of sibship tests of linkage and/or association, Am. J. Human Genet. 63:1517.
Nielsen, D., Ehm, M.G., and Weir, B.S., 1998, Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus, Am. J. Human Genet. 63:1531
Ott, J., 1991, Analysis of Human Genetic Linkage, Second Edition, Johns Hopkins Press, Baltimore.
Pritchard, C., Cox, D.R., and Myers, R.M., 1991, The end in sight for Huntington disease, Am. J. Human Genet. 49:1.
Spielman, R.S., McGinnis, R.E., and Ewens, W.J., 1993, Transmission test for linkage disequilibrium and association, Am. J. Human Genet. 59:983.
Weir, B.S., 1989, Locating the cystic fibrosis gene on the basis of linkage disequilibrium with markers? in: Multipoint Mapping and Linkage Based Upon Affected Pedigree Members: Genetic Data Analysis Workshop 6, Liss, New York, 81.
Weir, B.S., 1990, Looking for the cystic fibrosis gene with molecular markers, in: Population Biology of Genes and Molecules, N. Takahata and J.F. Crow, eds., Baifukan, Tokyo, 33.
Weir, B.S., 1996, Genetic Data Analysis II, Sinauer, Sunderland, MA.
Weir, B.S., and Hill, W.G., 1986, Nonuniform recombination within the human ß-globin gene cluster, Am. J. Human Genet. 38:776.
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Weir, B.S. (2000). A Statistician Looks for Human Disease Genes. In: Gustafson, J.P. (eds) Genomes. Stadler Genetics Symposia Series. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4235-3_2
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DOI: https://doi.org/10.1007/978-1-4615-4235-3_2
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