The HUGO Journal
SCOPUS (2009-2015)
1877-6566
1877-6558
Cơ quản chủ quản: N/A
Phân tích ảnh hưởng
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 haplotypes
- 2011
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...
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 ...
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...
Current and emerging therapeutic strategies for Fanconi anemia
Tập 6 - Trang 1-8 - 2012
Fanconi Anemia (FA) is a rare disorder with incidence of 1in 350,000 births. It
is characterized by progressive bone marrow failure leading to death of many
patients in their childhood while development of cancer at later stages of life
in some. The treatment of FA is still a medical challenge. Current treatments of
FA include androgen administration, hematopoietic growth factors administration
an...
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...
Translational genomics in personalized medicine – scientific challenges en route to clinical practice
Tập 6 - Trang 1-9 - 2012
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...