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  1. The rapid pace of genomic science advancements, including the completion of the human genome sequence, the extensive cataloguing of genetic variation and the acceleration of technologies to assess such variati...

    Authors: Patrice M Milos and Albert B Seymour

    Citation: Human Genomics 2004 1:444

    Content type: Perspective

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  2. Association studies are used to identify genetic determinants of complex human traits of medical interest. With the large number of validated single nucleotide polymorphisms (SNPs) currently available, two lim...

    Authors: David A Hinds, Albert B Seymour, L Kathryn Durham, Poulabi Banerjee, Dennis G Ballinger, Patrice M Milos, David R Cox, John F Thompson and Kelly A Frazer

    Citation: Human Genomics 2004 1:421

    Content type: Primary research

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  3. Until about 50 years ago, the altering of a normal drug effect by a genetic deficiency was only rarely observed. Here, my discovery of the genetic variant of butyrylcholinesterase affecting succinylcholine act...

    Authors: Werner Kalow

    Citation: Human Genomics 2004 1:375

    Content type: Historical perspective

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  4. Recently, there has been much interest in the use of Bayesian statistical methods for performing genetic analyses. Many of the computational difficulties previously associated with Bayesian analysis, such as m...

    Authors: John Molitor, Paul Marjoram, David Conti and Duncan Thomas

    Citation: Human Genomics 2004 1:371

    Content type: Software review

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  5. Cardiovascular disease is the most important cause of morbidity and mortality in developed countries, causing twice as many deaths as cancer in the USA. The major cardiovascular diseases, including coronary ar...

    Authors: Stephen Archacki and Qing Wang

    Citation: Human Genomics 2004 1:355

    Content type: Review

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  6. Polymorphisms in microsatellites on the human Y chromosome have been used to estimate important demographic parameters of human history. We compare two coalescent-based statistical methods that give estimates ...

    Authors: J Michael Macpherson, Sohini Ramachandran, Lisa Diamond and Marcus W Feldman

    Citation: Human Genomics 2004 1:345

    Content type: Primary research

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  7. Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-orde...

    Authors: Michael R Mehan, Nelson B Freimer and Roel A Ophoff

    Citation: Human Genomics 2004 1:335

    Content type: Primary research

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  8. Whole genome-wide scanning for susceptibility loci based on linkage disequilibrium (LD) has been proposed as a powerful strategy for mapping common complex diseases, especially in isolated populations. We recr...

    Authors: Hui-Ju Tsai, Guangyun Sun, Diane Smelser, Satupaitea Viali, Joseph Tufa, Li Jin, Daniel E Weeks, Stephen T McGarvey and Ranjan Deka

    Citation: Human Genomics 2004 1:327

    Content type: Primary research

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  9. Humans are exposed to countless foreign compounds, typically referred to as xenobiotics. These can include clinically used drugs, environmental pollutants, food additives, pesticides, herbicides and even natur...

    Authors: Frank J. Gonzalez

    Citation: Human Genomics 2004 1:300

    Content type: Review

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  10. Changes in DNA copy number are one of the hallmarks of the genetic instability common to most human cancers. Previous micro-array-based methods have been used to identify chromosomal gains and losses; however,...

    Authors: Jing Huang, Wen Wei, Jane Zhang, Guoying Liu, Graham R. Bignell, Michael R. Stratton, P. Andrew Futreal, Richard Wooster, Keith W. Jones and Michael H. Shapero

    Citation: Human Genomics 2004 1:287

    Content type: Primary research

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  11. Understanding the nature of evolutionary relationships among persons and populations is important for the efficient application of genome science to biomedical research. We have analysed 8,525 autosomal single...

    Authors: Mark D Shriver, Giulia C. Kennedy, Esteban J. Parra, Heather A. Lawson, Vibhor Sonpar, Jing Huang, Joshua M. Akey and Keith W. Jones

    Citation: Human Genomics 2004 1:274

    Content type: Primary research

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  12. The large single nucleotide polymorphism (SNP) typing projects have provided an invaluable data resource for human population geneticists. Almost all of the available SNP loci, however, have been identified th...

    Authors: Rasmus Nielsen

    Citation: Human Genomics 2004 1:218

    Content type: Review

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  13. Probe and primer design for single nucleotide polymorphism (SNP) detection can be very challenging for A-T DNA-rich targets, requiring long sequences with lower specificity and stability, while G-C-rich DNA ta...

    Authors: Yevgeniy S. Belousov, Robert A. Welch, Silvia Sanders, Alan Mills, Alena Kulchenko, Robert Dempcy, Irina A. Afonina, David K. Walburger, Cynthia L. Glaser, Sunita Yadavalli, Nicolaas M.J. Vermeulen and Walt Mahoney

    Citation: Human Genomics 2004 1:209

    Content type: Primary research

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  14. Chemokine signals and their cell-surface receptors are important modulators of HIV-1 disease and cancer. To aid future case/control association studies, aim to further characterise the haplotype structure of v...

    Authors: Vanessa J Clark and Michael Dean

    Citation: Human Genomics 2004 1:195

    Content type: Primary research

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  15. The Alu Yb-lineage is a 'young' primarily human-specific group of short interspersed element (SINE) subfamilies that have integrated throughout the human genome. In this study, we have computationally screened th...

    Authors: Anthony B. Carter, Abdel-Halim Salem, Dale J. Hedges, Catherine Nguyen Keegan, Beth Kimball, Jerilyn A. Walker, W. Scott Watkins, Lynn B. Jorde and Mark A. Batzer

    Citation: Human Genomics 2004 1:167

    Content type: Primary research

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  16. Genome comparisons are behind the powerful new annotation methods being developed to find all human genes, as well as genes from other genomes. Genomes are now frequently being studied in pairs to provide cros...

    Authors: David R. Nelson and Daniel W. Nebert

    Citation: Human Genomics 2004 1:146

    Content type: Genome update

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  17. Global gene expression analysis is beginning to move from the laboratories of basic investigators to large-scale clinical trials. The potential of this technology to improve diagnosis and tailored treatment of...

    Authors: Kristen M. Carr, Kevin Rosenblatt, Emanuel F. Petricoin and Lance A. Liotta

    Citation: Human Genomics 2004 1:134

    Content type: Review

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  18. The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation...

    Authors: Koen Devriendt and Joris R. Vermeesch

    Citation: Human Genomics 2004 1:126

    Content type: Review

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  19. The genetic basis for most of the rare lipid monogenic disorders have been elucidated, but the challenge remains in determining the combination of genes that contribute to the genetic variability in lipid leve...

    Authors: Jose M. Ordovas

    Citation: Human Genomics 2004 1:111

    Content type: Review

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  20. The genetic dissection of complex disease remains a significant challenge. Sample-tracking and the recording, processing and storage of high-throughput laboratory data with public domain data, require integrat...

    Authors: Oliver S. Burren, Barry C. Healy, Alex C. Lam, Helen Schuilenburg, Geoffrey E. Dolman, Vincent H. Everett, Davide Laneri, Sarah Nutland, Helen E. Rance, Felicity Payne, Deborah Smyth, Chris Lowe, Bryan J. Barratt, Rebecca C.J. Twells, Daniel B. Rainbow, Linda S. Wicker…

    Citation: Human Genomics 2004 1:98

    Content type: Primary research

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  21. In this paper, data on 20 X-chromosomal microsatellite polymorphisms from the HGDP-CEPH cell line panel are used to infer human population structure. Inferences from these data are compared to those obtained f...

    Authors: Sohini Ramachandran, Noah A. Rosenberg, Lev A. Zhivotovsky and Marcus W. Feldman

    Citation: Human Genomics 2004 1:87

    Content type: Primary research

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  22. There is now a wide choice of software available for linkage analysis. The most well known packages are briefly reviewed here. The package with the most extensive range of analyses is GENEHUNTER, but for many ...

    Authors: Frank Dudbridge

    Citation: Human Genomics 2003 1:63

    Content type: Software review

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  23. Rapidly developing comparative gene maps in selected mammal species are providing an opportunity to reconstruct the genomic architecture of mammalian ancestors and study rearrangements that transformed this an...

    Authors: William J Murphy, Guillaume Bourque, Glenn Tesler, Pavel Pevzner and Stephen J O'Brien

    Citation: Human Genomics 2003 1:30

    Content type: Primary research

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  24. In the search for genetic determinants of complex disease, two approaches to association analysis are most often employed, testing single loci or testing a small group of loci jointly via haplotypes for their ...

    Authors: Xiaohua Zhang, Kathryn Roeder, Garrick Wallstrom and Bernie Devlin

    Citation: Human Genomics 2003 1:20

    Content type: Primary research

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