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...
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 ...
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...
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 ...
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...
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...
A whole genome analyses of genetic variants in two Kelantan Malay individuals
Tập 8 - Trang 1-5 - 2014
The sequencing of two members of the Royal Kelantan Malay family genomes will
provide insights on the Kelantan Malay whole genome sequences. The two Kelantan
Malay genomes were analyzed for the SNP markers associated with thalassemia and
Helicobacter pylori infection. Helicobacter pylori infection was reported to be
low prevalence in the north-east as compared to the west coast of the Peninsular
M...