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  1. The genetic mapping of drug-response traits is often characterised by a poor signal-to-noise ratio that is placebo related and which distinguishes pharmacogenetic association studies from classical case-contro...

    Authors: Clara Singer, Iris Grossman, Nili Avidan, Jacques S Beckmann and Itsik Pe'er
    Citation: Human Genomics 2005 2:28
  2. Linkage maps have been invaluable for the positional cloning of many genes involved in severe human diseases. Standard genetic linkage maps have been constructed for this purpose from the Centre d'Etude du Pol...

    Authors: Jane Gibson, William Tapper, Weihua Zhang, Newton Morton and Andrew Collins
    Citation: Human Genomics 2005 2:20
  3. The glutathione S-transferase (GST) gene family encodes genes that are critical for certain life processes, as well as for detoxication and toxification mechanisms, via conjugation of reduced glutathione (GSH) wi...

    Authors: Daniel W Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2004 1:460
  4. The 'Statistical Analysis for Genetic Epidemiology' (S.A.G.E.) software package is an integrated, comprehensive package of computer programs designed to perform many of the different analyses required in the s...

    Authors: Robert C Elston and Courtney Gray-McGuire
    Citation: Human Genomics 2004 1:456

    The Erratum to this article has been published in Human Genomics 2005 2:77

  5. 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
  6. Comparison of the expression profiles of 2,721 genes in the cerebellum, cortex and pituitary gland of three American Staffordshire terriers, one beagle and one fox hound revealed regional expression difference...

    Authors: Erin Kennerly, Susanne Thomson, Natasha Olby, Matthew Breen and Greg Gibson
    Citation: Human Genomics 2004 1:435
  7. 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
  8. We have studied the recombination rate behaviour of a set of 140 genes which were investigated for their potential importance in inflammatory disease. Each gene was extensively sequenced in 24 individuals of A...

    Authors: Eric de Silva, Lawrence A Kelley and Michael PH Stumpf
    Citation: Human Genomics 2004 1:410
  9. Recent studies of haplotype diversity in a number of genomic regions have suggested that long stretches of DNA are preserved in the same chromosome, with little evidence of recombination events. The knowledge ...

    Authors: Anna González-Neira, Francesc Calafell, Arcadi Navarro, Oscar Lao, Howard Cann, David Comas and Jaume Bertranpetit
    Citation: Human Genomics 2004 1:399
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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

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