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
Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours
The HUGO Journal - Tập 4 - Trang 11-21 - 2011
K. L. Aung, R. E. Board, G. Ellison, E. Donald, T. Ward, G. Clack, M. Ranson, A. Hughes, W. Newman, C. Dive
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 be exploited as prognostic, predictive and pharmacodynamic biomarkers in the development and use of cancer therapeutics. As such, the importance in clinical practice of efficient and robust ...... hiện toàn bộ
The use of race, ethnicity and ancestry in human genetic research
The HUGO Journal - Tập 5 - Trang 47-63 - 2011
Sarah E. Ali-Khan, Tomasz Krakowski, Rabia Tahir, Abdallah S. Daar
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 for inferring genetic ancestry offers more empirical means of assigning group labels. Here, we provide a systematic analysis of the use of race/ethnicity and ancestry in current genetic resear...... 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
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
The HUGO Journal - Tập 3 - Trang 83-83 - 2010
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, Wei Chen
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 extent of functionality in the human genome
The HUGO Journal - Tập 7 - Trang 1-4 - 2013
John S Mattick, Marcel E Dinger
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 conservation and the existence of larger genomes in some ostensibly simpler organisms (the C-value enigma), indicating the likely presence of significant amounts of junk. Here we challenge these argume...... hiện toàn bộ
The impact of cis-acting polymorphisms on the human phenotype
The HUGO Journal - Tập 5 - Trang 13-23 - 2011
Bryony L. Jones, Dallas M. Swallow
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 signatures of cis-acting variation are differences in gene expression that are tightly associated with regulatory SNPs or expression Quantitative Trait Loci (eQTL) and an imbalance of allel...... hiện toàn bộ
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