The HUGO Journal

Official Journal of the Human Genome Organisation

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  1. Report

    Addressing ethical issues in H3Africa research – the views of research ethics committee members

    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 ...

    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

    The HUGO Journal 2015 9:1

    Published on: 31 January 2015

  2. Original research

    A genome wide pattern of population structure and admixture in peninsular Malaysia Malays

    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...

    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

    The HUGO Journal 2014 8:5

    Published on: 30 October 2014

  3. Original research

    A whole genome analyses of genetic variants in two Kelantan Malay individuals

    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...

    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

    The HUGO Journal 2014 8:4

    Published on: 21 October 2014

  4. Review

    The extent of functionality in the human genome

    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...

    John S Mattick and Marcel E Dinger

    The HUGO Journal 2013 7:2

    Published on: 15 July 2013

  5. Review

    An economic perspective on personalized medicine

    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...

    Sairamesh Jakka and Michael Rossbach

    The HUGO Journal 2013 7:1

    Published on: 19 April 2013

  6. Review

    Current and emerging therapeutic strategies for Fanconi anemia

    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...

    Pallavi Shukla, Kanjaksha Ghosh and Babu R Vundinti

    The HUGO Journal 2012 6:1

    Published on: 9 March 2012

  7. Review

    Review of massively parallel DNA sequencing technologies

    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 ...

    Sowmiya Moorthie, Christopher J. Mattocks and Caroline F. Wright

    The HUGO Journal 2011 5:9156

    Published on: 27 October 2011

  8. Review

    The impact of cis-acting polymorphisms on the human phenotype

    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...

    Bryony L. Jones and Dallas M. Swallow

    The HUGO Journal 2011 5:9155

    Published on: 20 July 2011

  9. Research article

    The use of race, ethnicity and ancestry in human genetic research

    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...

    Sarah E. Ali-Khan, Tomasz Krakowski, Rabia Tahir and Abdallah S. Daar

    The HUGO Journal 2011 5:9154

    Published on: 7 July 2011

  10. Research article

    Haplotype variation in the ACE gene in global populations, with special reference to India, and an alternative model of evolution of haplotypes

    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...

    Shabana Farheen, Analabha Basu and Partha P. Majumder

    The HUGO Journal 2011 5:9153

    Published on: 16 April 2011

  11. Research article

    Genome-wide identification and annotation of HIF-1α binding sites in two cell lines using massively parallel sequencing

    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 ...

    Kousuke Tanimoto, Katsuya Tsuchihara, Akinori Kanai, Takako Arauchi, Hiroyasu Esumi, Yutaka Suzuki and Sumio Sugano

    The HUGO Journal 2011 4:9150

    Published on: 19 February 2011

  12. Review

    Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours

    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...

    K. L. Aung, R. E. Board, G. Ellison, E. Donald, T. Ward, G. Clack, M. Ranson, A. Hughes, W. Newman and C. Dive

    The HUGO Journal 2011 4:9149

    Published on: 30 January 2011

  13. Review Article

    Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype

    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...

    Adam J. de Smith, Anne L. Trewick and Alexandra I. F. Blakemore

    The HUGO Journal 2010 4:9144

    Published on: 10 August 2010

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