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...
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
Genome-wide identification and annotation of HIF-1α binding sites in two cell lines using massively parallel sequencing
Tập 4 - Trang 35-48 - 2011
We identified 531 and 616 putative HIF-1α target sites by ChIP-Seq in the
cancerous cell line DLD-1 and the non-cancerous cell line TIG-3, respectively.
We also examined the positions and expression levels of transcriptional start
sites (TSSs) in these cell lines using our TSS-Seq method. We observed that 121
and 48 genes in DLD-1 and TIG-3 cells, respectively, had HIF-1α binding sites in
proximal...
The impact of cis-acting polymorphisms on the human phenotype
Tập 5 - Trang 13-23 - 2011
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...
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 ...