The HUGO Journal

SCOPUS (2009-2015)

  1877-6566

  1877-6558

 

 

Cơ quản chủ quản:  N/A

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Các bài báo tiêu biểu

Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer
- 2009
Ava Kwong, Laurence Wong, Hiu Yung Wong, Fian B.F. Law, Enders K.W. Ng, Yong Tang, William W.‐C. Chan, Dacita Suen, Changyong Choi, Lina Ho, K. H. Kwan, M. Poon, Ting Ting Wong, Kwok Keung Chan, Siu On Chan, Marcus Ying, Wing-cheong Chan, Edmond S.K., James M. Ford, Dee W. West
Haplotype variation in the ACE gene in global populations, with special reference to India, and an alternative model of evolution of haplotypes
- 2011
Shabana Farheen, Analabha Basu, Partha P. Majumder
Abstract 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 to draw inferences on the nature of selective forces that may be operating on this gene. We have investigated the haplotype profiles reconstructed using polymorphisms in the regula... hiện toàn bộ
The Human Genome Organisation (HUGO)
Tập 3 Số 1-4 - Trang 3-4 - 2009
Edison T. Liu
Genetic variation in response to a typhoid vaccine
Tập 3 - Trang 15-16 - 2010
David R. Cox
Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development
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
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 GAMY Project: young people’s attitudes to genetics in the South Wales valleys
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
Translational genomics in personalized medicine – scientific challenges en route to clinical practice
Tập 6 - Trang 1-9 - 2012
Marta Garcia Martinez de Lecea, Michael Rossbach
In the area of omics and translational bio(medical)sciences, there is an increasing need to integrate, normalize, analyze, store and protect genomics data. Large datasets and scientific knowledge are rationally combined into valuable clinical information that ultimately will benefit human healthcare and are en route to clinical practice. Data from biomarker discovery and Next Generation Sequencing... hiện toàn bộ