Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium

The American Journal of Human Genetics - Tập 74 Số 1 - Trang 106-120 - 2004
Christopher S. Carlson1, Michael A. Eberle2, Mark J. Rieder1, Yi Qian1, Leonid Kruglyak2,3, Deborah A. Nickerson1
1Department of Genome Sciences, University of Washington, Fred Hutchinson Cancer Research Center, Seattle
2Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle
3Howard Hughes Medical Institute, Seattle

Tóm tắt

Từ khóa


Tài liệu tham khảo

Ackerman, 2003, Haplotypic analysis of the TNF locus by association efficiency and entropy, Genome Biol, 4, R24, 10.1186/gb-2003-4-4-r24

Botstein, 2003, Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease, Nat Genet, 228, 10.1038/ng1090

Cambien, 1999, Sequence diversity in 36 candidate genes for cardiovascular disorders, Am J Hum Genet, 65, 183, 10.1086/302448

Cargill, 1999, Characterization of single-nucleotide polymorphisms in coding regions of human genes, Nat Genet, 22, 231, 10.1038/10290

Carlson, 2003, Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans, Nat Genet, 33, 518, 10.1038/ng1128

Chakravarti, 1984, Nonuniform recombination within the human β-globin gene cluster, Am J Hum Genet, 36, 1239

Collins, 1997, Variations on a theme: cataloging human DNA sequence variation, Science, 278, 1580, 10.1126/science.278.5343.1580

Devlin, 1995, A comparison of linkage disequilibrium measures for fine-scale mapping, Genomics, 29, 311, 10.1006/geno.1995.9003

Ewens, 1979

Ewing, 1998, Base-calling of automated sequencer traces using Phred. II. Error probabilities, Genome Res, 8, 186, 10.1101/gr.8.3.186

Ewing, 1998, Base-calling of automated sequencer traces using Phred. I. Accuracy assessment, Genome Res, 8, 175, 10.1101/gr.8.3.175

Gabriel, 2002, The structure of haplotype blocks in the human genome, Science, 296, 2225, 10.1126/science.1069424

Gordon, 1998, Consed: a graphical tool for sequence finishing, Genome Res, 8, 195, 10.1101/gr.8.3.195

Halushka, 1999, Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis, Nat Genet, 22, 239, 10.1038/10297

Hill, 1974, Estimation of linkage disequilibrium in randomly mating populations, Heredity, 33, 229, 10.1038/hdy.1974.89

Hill, 1968, The effects of inbreeding at loci with heterozygote advantage, Genetics, 60, 615, 10.1093/genetics/60.3.615

Hudson, 2002, Generating samples under a Wright-Fisher neutral model of genetic variation, Bioinformatics, 18, 337, 10.1093/bioinformatics/18.2.337

Jeffreys, 2001, Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex, Nat Genet, 29, 217, 10.1038/ng1001-217

Johnson, 2001, Haplotype tagging for the identification of common disease genes, Nat Genet, 29, 233, 10.1038/ng1001-233

Ke, 2003, Efficient selective screening of haplotype tag SNPs, Bioinformatics, 19, 287, 10.1093/bioinformatics/19.2.287

Kruglyak, 2001, Variation is the spice of life, Nat Genet, 27, 234, 10.1038/85776

Lander, 2001, Initial sequencing and analysis of the human genome, Nature, 409, 860, 10.1038/35057062

Livak, 1999, Allelic discrimination using fluorogenic probes and the 5′ nuclease assay, Genet Anal, 14, 143, 10.1016/S1050-3862(98)00019-9

Meng, 2003, Selection of genetic markers for association analyses, using linkage disequilibrium and haplotypes, Am J Hum Genet, 73, 115, 10.1086/376561

Nickerson, 2000, Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene, Genome Res, 10, 1532, 10.1101/gr.146900

Nickerson, 1997, PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing, Nucleic Acids Res, 25, 2745, 10.1093/nar/25.14.2745

Patil, 2001, Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21, Science, 294, 1719, 10.1126/science.1065573

Pritchard, 2001, Linkage disequilibrium in humans: models and data, Am J Hum Genet, 69, 1, 10.1086/321275

Rieder, 1999, Sequence variation in the human angiotensin converting enzyme, Nat Genet, 22, 59, 10.1038/8760

Sachidanandam, 2001, A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms, Nature, 409, 928, 10.1038/35057149

Stephens, 2001, Haplotype variation and linkage disequilibrium in 313 human genes, Science, 293, 489, 10.1126/science.1059431

Stephens, 2001, A new statistical method for haplotype reconstruction from population data, Am J Hum Genet, 68, 978, 10.1086/319501

Stram, 2003, Choosing haplotype-tagging SNPs based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the multiethnic cohort study, Hum Hered, 55, 27, 10.1159/000071807

Subrahmanyan, 2001, Sequence variation and linkage disequilibrium in the human T-cell receptor β(TCRB) locus, Am J Hum Genet, 69, 381, 10.1086/321297

Venter, 2001, The sequence of the human genome, Science, 291, 1304, 10.1126/science.1058040

Wang, 1998, Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome, Science, 280, 1077, 10.1126/science.280.5366.1077

Weale, 2003, Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping, Am J Hum Genet, 73, 551, 10.1086/378098

Wright, 1931, Evolution in Mendelian populations, Genetics, 16, 97, 10.1093/genetics/16.2.97

Zhang, 2002, Haplotype block structure and its applications to association studies: power and study designs, Am J Hum Genet, 71, 1386, 10.1086/344780

Zhang, 2002, A dynamic programming algorithm for haplotype block partitioning, Proc Natl Acad Sci USA, 99, 7335, 10.1073/pnas.102186799

Zhang, 2003, HaploBlockFinder: haplotype block analyses, Bioinformatics, 19, 1300, 10.1093/bioinformatics/btg142