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  1. Content type: Review

    The origin of the recombination-activating genes (RAGs) is considered to be a foundation hallmark for adaptive immunity, characterised by the presence of antigen receptor genes that provide the ability to recogni...

    Authors: Maristela Martins de Camargo and Laila Alves Nahum

    Citation: Human Genomics 2005 2:132

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  2. Content type: Review

    The regulation of gene expression plays an important role in complex phenotypes, including disease in humans. For some genes, the genetic mechanisms influencing gene expression are well elucidated; however, it...

    Authors: Barbara E. Stranger and Emmanouil T. Dermitzakis

    Citation: Human Genomics 2005 2:126

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  3. Content type: Review

    Natural selection, which can be defined as the differential contribution of genetic variants to future generations, is the driving force of Darwinian evolution. Identifying regions of the human genome that hav...

    Authors: James Ronald and Joshua M. Akey

    Citation: Human Genomics 2005 2:113

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  4. Content type: Primary research

    Understanding the distribution of human genetic variation is an important foundation for research into the genetics of common diseases. Some of the alleles that modify common disease risk are themselves likely...

    Authors: Mark D. Shriver, Rui Mei, Esteban J. Parra, Vibhor Sonpar, Indrani Halder, Sarah A. Tishkoff, Theodore G. Schurr, Sergev I. Zhadanov, Ludmila P. Osipova, Tom D. Brutsaert, Jonathan Friedlaender, Lynn B. Jorde, W. Scott Watkins, Michael J. Bamshad, Gerardo Gutierrez, Halina Loi…

    Citation: Human Genomics 2005 2:81

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  5. Content type: Primary research

    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

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  6. Content type: Primary research

    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

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  7. Content type: Genome update

    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

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  8. Content type: Software review

    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

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

  9. Content type: Perspective

    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

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  10. Content type: Primary research

    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

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  11. Content type: Primary research

    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

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  12. Content type: Primary research

    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

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  13. Content type: Primary research

    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

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  14. Content type: Historical perspective

    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

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  15. Content type: Software review

    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

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  16. Content type: Review

    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

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  17. Content type: Primary research

    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

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  18. Content type: Primary research

    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

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  19. Content type: Primary research

    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

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  20. Content type: Review

    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

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  21. Content type: Primary research

    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

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  22. Content type: Primary research

    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

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  23. Content type: Review

    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

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  24. Content type: Primary research

    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

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  25. Content type: Primary research

    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

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  26. Content type: Primary research

    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

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