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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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

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