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...
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...
Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development
Tập 3 - Trang 31-40 - 2010
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...
Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours
Tập 4 - Trang 11-21 - 2011
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 ...
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...
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Tập 3 - Trang 83-83 - 2010
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...
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...