The HUGO Journal
1877-6566
1877-6558
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Các bài báo tiêu biểu
Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer
- 2009
Haplotype variation in the ACE gene in global populations, with special reference to India, and an alternative model of evolution of haplotypesAbstract
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 ... ... hiện toàn bộ
- 2011
The extent of functionality in the human genome
Tập 7 - Trang 1-4 - 2013
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 GAMY Project: young people’s attitudes to genetics in the South Wales valleys
Tập 4 - Trang 49-60 - 2011
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
An economic perspective on personalized medicine
Tập 7 - Trang 1-6 - 2013
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 through early-detection, prevention, accurate risk assessments and efficiencies in care delivery. Current inefficiencies are widely regarded as substantial enough to have a significant impact on t...... hiện toàn bộ
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
- 2010
Massive parallel sequencing has revolutionized the search for pathogenic variants in the human genome, but for routine diagnosis, re-sequencing of the complete human genome in a large cohort of patients is still far too expensive. Recently, novel genome partitioning methods have been developed that allow to target re-sequencing to specific genomic compartments, but practical experience with these ...... hiện toàn bộ
Intra-consortium data sharing in multi-national, multi-institutional genomic studies: gaps and guidance
Tập 3 - Trang 11-14 - 2009
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
Germs, genomics and global public health
Tập 3 - Trang 5-9 - 2009
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