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 ...
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...
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...
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
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...
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...