The HUGO Journal

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Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development
The HUGO Journal - Tập 3 - Trang 31-40 - 2010
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, Hiltrud Brauch, Georgia Chenevix-Trench, Jonathan Beesley, Amanda B. Spurdle, Xiaoqing Chen, Kamila Czene, Per Hall, Heli Nevanlinna, Edison T. Liu
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 molecularly. Recent technological advances have made it possible to identify bona fide regulatory sequences experimentally on a genome-wide scale and opened the window for the biological interroga...... hiện toàn bộ
Framework for responsible sharing of genomic and health-related data
The HUGO Journal - Tập 8 - Trang 1-6 - 2014
Bartha Maria Knoppers
Intra-consortium data sharing in multi-national, multi-institutional genomic studies: gaps and guidance
The HUGO Journal - Tập 3 - Trang 11-14 - 2009
Jerome Amir Singh, Abdallah S. Daar
Growing investments in health research by governments and charitable organizations have fueled an increase in collaborative research projects between investigators from affluent and developing countries. Current international guidelines are silent on common intra-consortium data-sharing issues that arise in the context of such collaborations. A lack of guidance on intra-consortium data sharing thr...... hiện toàn bộ
Genetic variation in response to a typhoid vaccine
The HUGO Journal - Tập 3 - Trang 15-16 - 2010
David R. Cox
The GAMY Project: young people’s attitudes to genetics in the South Wales valleys
The HUGO Journal - Tập 4 - Trang 49-60 - 2011
Rachel Iredale, Kim Madden, Nicola Taverner, Juping Yu, Kevin McDonald
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 and Merthyr Youth) Project involved a series of interactions with participants, including 2 interviews, 4 group days and 4 genetics tasks through which these young people learned about, and the...... hiện toàn bộ
The Human Genome Organisation (HUGO)
The HUGO Journal - Tập 3 Số 1-4 - Trang 3-4 - 2009
Edison T. Liu
Germs, genomics and global public health
The HUGO Journal - Tập 3 - Trang 5-9 - 2009
T. Pang
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-emerging pathogens. These techniques, coupled with increasing knowledge of host-pathogen interactions, can assist in the early identification and containment of outbreaks as well as in the deve...... hiện toàn bộ
International code of conduct for genomic and health-related data sharing
The HUGO Journal - Tập 8 - Trang 1-4 - 2014
Sumio Sugano
A whole genome analyses of genetic variants in two Kelantan Malay individuals
The HUGO Journal - Tập 8 - Trang 1-5 - 2014
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, Bin Alwi Zilfalil
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 associated with thalassemia and Helicobacter pylori infection. Helicobacter pylori infection was reported to be low prevalence in the north-east as compared to the west coast of the Peninsular M...... hiện toàn bộ
Genome-wide identification and annotation of HIF-1α binding sites in two cell lines using massively parallel sequencing
The HUGO Journal - Tập 4 - Trang 35-48 - 2011
Kousuke Tanimoto, Katsuya Tsuchihara, Akinori Kanai, Takako Arauchi, Hiroyasu Esumi, Yutaka Suzuki, Sumio Sugano
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 transcriptional start sites (TSSs) in these cell lines using our TSS-Seq method. We observed that 121 and 48 genes in DLD-1 and TIG-3 cells, respectively, had HIF-1α binding sites in proximal...... hiện toàn bộ
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