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
Intra-consortium data sharing in multi-national, multi-institutional genomic studies: gaps and guidance
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
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
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
The impact of cis-acting polymorphisms on the human phenotype
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
Genetic determinants of immune-response to a polysaccharide vaccine for typhoid
Tập 3 - Trang 17-30 - 2010
Partha P. Majumder, Herman F. Staats, Neeta Sarkar-Roy, Binuja Varma, Trina Ghosh, Sujit Maiti, K. Narayanasamy, Carol C. Whisnant, James L. Stephenson, Diane K. Wagener
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 vaccine can be used to design a vaccine that circumvents immunogenetic restrictions. The currently available vaccine for typhoid is a pure polysaccharide vaccine, immune response to which is T-cel... hiện toàn bộ