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  1. Association studies hold great promise for the elucidation of the genetic basis of diseases. Studies based on functional single nucleotide polymorphisms (SNPs) or on linkage disequilibrium (LD) represent two m...

    Authors: Victoria EH Carlton, James S Ireland, Francisco Useche and Malek Faham
    Citation: Human Genomics 2006 2:391
  2. The NAD(P)H:quinone acceptor oxidoreductase (NQO) gene family belongs to the flavoprotein clan and, in the human genome, consists of two genes (NQO1 and NQO2). These two genes encode cytosolic flavoenzymes that c...

    Authors: Vasilis Vasiliou, David Ross and Daniel W. Nebert
    Citation: Human Genomics 2006 2:329
  3. The detection of gene - gene and gene - environment interactions associated with complex human disease or pharmacogenomic endpoints is a difficult challenge for human geneticists. Unlike rare, Mendelian diseas...

    Authors: Alison A Motsinger and Marylyn D Ritchie
    Citation: Human Genomics 2006 2:318
  4. Recent developments in the statistical analysis of genome-wide studies are reviewed. Genome-wide analyses are becoming increasingly common in areas such as scans for disease-associated markers and gene express...

    Authors: Frank Dudbridge, Arief Gusnanto and Bobby PC Koeleman
    Citation: Human Genomics 2006 2:310
  5. Fabry disease, an X-linked recessive inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase, α-galactosidase A (EC 3.2.1.22; α-Gal A). The molecula...

    Authors: Junaid Shabbeer, Makiko Yasuda, Stacy D Benson and Robert J Desnick
    Citation: Human Genomics 2006 2:297
  6. Although highly penetrant alleles of BRCA1 and BRCA2 have been shown to predispose to breast cancer, the majority of breast cancer cases are assumed to result from the presence of low-moderate penetrant alleles a...

    Authors: Sevtap Savas, Steffen Schmidt, Hamdi Jarjanazi and Hilmi Ozcelik
    Citation: Human Genomics 2006 2:287
  7. The sequence of the human genome provides a scaffold on which numerous annotations, such the locations of genes, can be laid. Genome browsers have been created to allow the simultaneous display of multiple ann...

    Authors: Terrence S Furey
    Citation: Human Genomics 2006 2:266
  8. Genetic data are now widely available. There is, however, an apparent lack of concerted effort to produce software systems for statistical analysis of genetic data compared with other fields of statistics. It ...

    Authors: Jing Hua Zhao and Qihua Tan
    Citation: Human Genomics 2006 2:258
  9. The recent surge in mitochondrial research has been driven by the identification of mitochondria-associated diseases and the role of mitochondria in apoptosis. Both of these aspects have identified mitochondri...

    Authors: Ryan L Parr, Gabriel D Dakubo, Robert E Thayer, Keith McKenney and Mark A Birch-Machin
    Citation: Human Genomics 2006 2:252
  10. Similar to other classical science disciplines, immunology has been embracing novel technologies and approaches giving rise to specialised sub-disciplines such as immunogenetics and, more recently, immunogenom...

    Authors: Marcos M Miretti and Stephan Beck
    Citation: Human Genomics 2006 2:244
  11. The US Food and Drug Administration (FDA) encourages the development of new technologies such as microarrays which may improve and streamline assessments of safety and the effectiveness of medical products for...

    Authors: Živana Težak, Daya Ranamukhaarachchi, Estelle Russek-Cohen and Steven I Gutman
    Citation: Human Genomics 2006 2:236
  12. The ability to infer personal genetic ancestry is being increasingly utilised in certain medical and forensic situations. Herein, the unsupervised Bayesian clustering algorithms structure, is employed to analyse ...

    Authors: Jayne E Ekins, Jacob B Ekins, Lara Layton, Luke AD Hutchison, Natalie M Myres and Scott R Woodward
    Citation: Human Genomics 2006 2:212
  13. Recessively inherited phenotypes are frequent in the Palestinian population, as the result of a historical tradition of marriages within extended kindreds, particularly in isolated villages. In order to charac...

    Authors: Tom Walsh, Amal Abu Rayan, Judeh Abu Sa'ed, Hashem Shahin, Jeanne Shepshelovich, Ming K Lee, Koret Hirschberg, Mustafa Tekin, Wa'el Salhab, Karen B Avraham, Mary-Claire King and Moien Kanaan
    Citation: Human Genomics 2006 2:203
  14. The current proliferation of mammalian genomes is creating a nomenclature issue caused by naming genes based on their best BLAST hit to a gene in another annotated genome. The rat genome is relying heavily on ...

    Authors: David R. Nelson
    Citation: Human Genomics 2005 2:196
  15. This paper provides a brief overview of software currently available for the genetic analysis of quantitative traits in humans. Programs that implement variance components, Markov Chain Monte Carlo (MCMC), Has...

    Authors: Laura Almasy and Diane M Warren
    Citation: Human Genomics 2005 2:191
  16. The available web-based genome data and related resources provide great opportunities for biomedical scientists to identify functional elements in a particular genome region or to explore the evolutionary patt...

    Authors: Xun Gu and Zhixi Su
    Citation: Human Genomics 2005 2:187
  17. Recombination and mutation have traditionally been regarded as independent evolutionary processes: the latter generates variation, which the former reshuffles. Recent studies, however, have suggested that alle...

    Authors: Matthew Hurles
    Citation: Human Genomics 2005 2:179
  18. Members of the NR1I subfamily of nuclear receptors play a role in the transcriptional activation of genes involved in drug metabolism and transport. NR1I3, the constitutive androstane receptor (CAR), mediates ...

    Authors: Emma E Thompson, Hala Kuttab-Boulos, Matthew D Krasowski and Anna Di Rienzo
    Citation: Human Genomics 2005 2:168
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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

  27. 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
  28. 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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