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Official Journal of the Human Genome Organisation

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  1. In June 2014, the H3Africa Working Group on Ethics organised a workshop with members of over 40 research ethics committees from across Africa to discuss the ethical challenges raised in H3Africa research, and ...

    Authors: Jantina de Vries, Akin Abayomi, Katherine Littler, Ebony Madden, Sheryl McCurdy, Odile Ouwe Missi Oukem-Boyer, Janet Seeley, Ciara Staunton, Godfrey Tangwa, Paulina Tindana and Jennifer Troyer
    Citation: The HUGO Journal 2015 9:1
  2. The Malays consist of various sub-ethnic groups which are believed to have different ancestral origins based on their migrations centuries ago. The sub-ethnic groups can be divided based on the region they inh...

    Authors: Wan Isa Hatin, Ab Rajab Nur-Shafawati, Ali Etemad, Wenfei Jin, Pengfei Qin, Shuhua Xu, Li Jin, Soon-Guan Tan, Pornprot Limprasert, Merican Amir Feisal, Mohammed Rizman-Idid and Bin Alwi Zilfalil
    Citation: The HUGO Journal 2014 8:5
  3. The sequencing of two members of the Royal Kelantan Malay family genomes will provide insights on the Kelantan Malay whole genome sequences. The two Kelantan Malay genomes were analyzed for the SNP markers ass...

    Authors: Wan Khairunnisa Wan Juhari, Nur Aida Md Tamrin, Mohd Hanif Ridzuan Mat Daud, Hatin Wan Isa, Nurfazreen Mohd Nasir, Sathiya Maran, Nur Shafawati Abdul Rajab, Khairul Bariah Ahmad Amin Noordin, Nik Norliza Nik Hassan, Rick Tearle, Rozaimi Razali, Amir Feisal Merican and Bin Alwi Zilfalil
    Citation: The HUGO Journal 2014 8:4
  4. Opportunities provided by rapidly increasing access to educational resources, clinical and epidemiological data, DNA collections, cheaper technology and financial investment, suggest that researchers in sub-Sa...

    Authors: Endashaw Bekele, Walter F Bodmer, Neil Bradman, Ian W Craig, Julie Makani, Sue Povey and Charles Rotimi
    Citation: The HUGO Journal 2014 8:2
  5. Recently articles have been published disputing the main finding of the ENCODE project that the majority of the human genome exhibits biochemical indices of function, based primarily on low sequence conservati...

    Authors: John S Mattick and Marcel E Dinger
    Citation: The HUGO Journal 2013 7:2
  6. The concept of personalized medicine not only promises to enhance the life of patients and increase the quality of clinical practice and targeted care pathways, but also to lower overall healthcare costs throu...

    Authors: Sairamesh Jakka and Michael Rossbach
    Citation: The HUGO Journal 2013 7:1
  7. Fanconi Anemia (FA) is a rare disorder with incidence of 1in 350,000 births. It is characterized by progressive bone marrow failure leading to death of many patients in their childhood while development of can...

    Authors: Pallavi Shukla, Kanjaksha Ghosh and Babu R Vundinti
    Citation: The HUGO Journal 2012 6:1
  8. Since the development of technologies that can determine the base-pair sequence of DNA, the ability to sequence genes has contributed much to science and medicine. However, it has remained a relatively costly ...

    Authors: Sowmiya Moorthie, Christopher J. Mattocks and Caroline F. Wright
    Citation: The HUGO Journal 2011 5:9156
  9. Cis-acting polymorphisms that affect gene expression are now known to be frequent, although the extent and mechanisms by which such variation affects the human phenotype are, as yet, only poorly understood. Key s...

    Authors: Bryony L. Jones and Dallas M. Swallow
    Citation: The HUGO Journal 2011 5:9155
  10. Post-Human Genome Project progress has enabled a new wave of population genetic research, and intensified controversy over the use of race/ethnicity in this work. At the same time, the development of methods f...

    Authors: Sarah E. Ali-Khan, Tomasz Krakowski, Rabia Tahir and Abdallah S. Daar
    Citation: The HUGO Journal 2011 5:9154
  11. Angiotensin-I-converting enzyme (ACE) is known to be associated with human cardiovascular and psychiatric pathophysiology. We have undertaken a global survey of the haplotypes in ACE gene to study diversity and t...

    Authors: Shabana Farheen, Analabha Basu and Partha P. Majumder
    Citation: The HUGO Journal 2011 5:9153
  12. In recent years, genome-sequencing projects of pathogens and humans have revolutionized microbial drug target identification. Of the several known genomic strategies, subtractive genomics has been successfully...

    Authors: Umashankar Vetrivel, Gurunathan Subramanian and Sudarsanam Dorairaj
    Citation: The HUGO Journal 2011 5:9152
  13. We identified 531 and 616 putative HIF-1α target sites by ChIP-Seq in the cancerous cell line DLD-1 and the non-cancerous cell line TIG-3, respectively. We also examined the positions and expression levels of ...

    Authors: Kousuke Tanimoto, Katsuya Tsuchihara, Akinori Kanai, Takako Arauchi, Hiroyasu Esumi, Yutaka Suzuki and Sumio Sugano
    Citation: The HUGO Journal 2011 4:9150
  14. Genetic alterations can determine the natural history of cancer and its treatment response. With further advances in DNA sequencing technology, multiple novel genetic alterations will be discovered which could...

    Authors: K. L. Aung, R. E. Board, G. Ellison, E. Donald, T. Ward, G. Clack, M. Ranson, A. Hughes, W. Newman and C. Dive
    Citation: The HUGO Journal 2011 4:9149
  15. This paper explores young people’s attitudes to genetics. It describes a qualitative study involving a group of teenagers in a deprived South Wales valley town over a period of 18 months. The GAMY (Genetics an...

    Authors: Rachel Iredale, Kim Madden, Nicola Taverner, Juping Yu and Kevin McDonald
    Citation: The HUGO Journal 2011 4:9148
  16. Copy number variation is common in the human genome with many regions, overlapping thousands of genes, now known to be deleted or amplified. Aneuploidies and other forms of chromosomal imbalance have a wide ra...

    Authors: Adam J. de Smith, Anne L. Trewick and Alexandra I. F. Blakemore
    Citation: The HUGO Journal 2010 4:9144
  17. Multiple lines of evidence suggest regulatory variation to play an important role in phenotypic evolution and disease development, but few regulatory polymorphisms have been characterized genetically and molec...

    Authors: Jianjun Liu, Kartiki Vasant Desai, Yuqing Li, Shakeela Banu, Yew Kok Lee, Dianbo Qu, Tuomas Heikkinen, Kirsimari Aaltonen, Taru A. Muranen, Tasneem Shabbir Kajiji, Carine Bonnard, Kristiina Aittomäki, Karl von Smitten, Carl Blomqvist, John L. Hopper, Melissa C. Southey…
    Citation: The HUGO Journal 2010 3:9138
  18. Authors: Hao Hu, Klaus Wrogemann, Vera Kalscheuer, Andreas Tzschach, Hugues Richard, Stefan A. Haas, Corinna Menzel, Melanie Bienek, Guy Froyen, Martine Raynaud, Hans Van Bokhoven, Jamel Chelly, Hilger Ropers and Wei Chen
    Citation: The HUGO Journal 2010 3:9142

    The original article was published in The HUGO Journal 2010 3:s11568-010-9137-y

  19. Breast cancers related to BRCA mutations are associated with particular biological features. Here we report the clinical and pathological characteristics of breast cancer in Chinese women with and without BRCA mu...

    Authors: Ava Kwong, L. P. Wong, H. N. Wong, F. B. F. Law, E. K. O. Ng, Y. H. Tang, W. K. Chan, D. T. K. Suen, C. Choi, L. S. Ho, K. H. Kwan, M. Poon, T. T. Wong, K. Chan, S. W. W. Chan, M. W. L. Ying…
    Citation: The HUGO Journal 2010 3:9136
  20. Massive parallel sequencing has revolutionized the search for pathogenic variants in the human genome, but for routine diagnosis, re-sequencing of the complete human genome in a large cohort of patients is sti...

    Authors: Hao Hu, Klaus Wrogemann, Vera Kalscheuer, Andreas Tzschach, Hugues Richard, Stefan A. Haas, Corinna Menzel, Melanie Bienek, Guy Froyen, Martine Raynaud, Hans Van Bokhoven, Jamel Chelly, Hilger Ropers and Wei Chen
    Citation: The HUGO Journal 2010 3:9137

    The Erratum to this article has been published in The HUGO Journal 2010 3:s11568-010-9142-1

  21. Differences in immunological response among vaccine recipients are determined both by their genetic differences and environmental factors. Knowledge of genetic determinants of immunological response to a vacci...

    Authors: Partha P. Majumder, Herman F. Staats, Neeta Sarkar-Roy, Binuja Varma, Trina Ghosh, Sujit Maiti, K. Narayanasamy, Carol C. Whisnant, James L. Stephenson and Diane K. Wagener
    Citation: The HUGO Journal 2010 3:9134
  22. Loci contributing to complex disease have been identified by focusing on genome-wide scans utilising non-synonymous single nucleotide polymorphisms (nsSNPs). We employed Illumina’s HNS12 BeadChip (13,917 high-...

    Authors: Amy Jayne McKnight, Diane Currie, Chris C. Patterson, Alexander P. Maxwell and Damian G. Fogarty
    Citation: The HUGO Journal 2010 3:9133
  23. Thalassaemia and sickle cell disease have been recognized by the World Health Organization as important inherited disorders principally impacting on the populations of low income countries. To create a nationa...

    Authors: S. Sinha, M. L. Black, S. Agarwal, R. Colah, R. Das, K. Ryan, M. Bellgard and A. H. Bittles
    Citation: The HUGO Journal 2010 3:9132
  24. Scientific and technological advances derived from the genomics revolution have a central role to play in dealing with continuing infectious disease threats in the developing world caused by emerging and re-em...

    Authors: T. Pang
    Citation: The HUGO Journal 2009 3:9131