The HUGO Journal
Công bố khoa học tiêu biểu
* Dữ liệu chỉ mang tính chất tham khảo
Sắp xếp:
Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development
The HUGO Journal - 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...... hiện toàn bộ
The extent of functionality in the human genome
The HUGO Journal - 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...... hiện toàn bộ
Intra-consortium data sharing in multi-national, multi-institutional genomic studies: gaps and guidance
The HUGO Journal - Tập 3 - Trang 11-14 - 2009
Growing investments in health research by governments and charitable organizations have fueled an increase in collaborative research projects between investigators from affluent and developing countries. Current international guidelines are silent on common intra-consortium data-sharing issues that arise in the context of such collaborations. A lack of guidance on intra-consortium data sharing thr...... hiện toàn bộ
A whole genome analyses of genetic variants in two Kelantan Malay individuals
The HUGO Journal - 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...... hiện toàn bộ
Genome-wide identification and annotation of HIF-1α binding sites in two cell lines using massively parallel sequencing
The HUGO Journal - 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...... hiện toàn bộ
Current and emerging therapeutic strategies for Fanconi anemia
The HUGO Journal - 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...... hiện toàn bộ
Genetic determinants of immune-response to a polysaccharide vaccine for typhoid
The HUGO Journal - Tập 3 - Trang 17-30 - 2010
Differences in immunological response among vaccine recipients are determined both by their genetic differences and environmental factors. Knowledge of genetic determinants of immunological response to a vaccine can be used to design a vaccine that circumvents immunogenetic restrictions. The currently available vaccine for typhoid is a pure polysaccharide vaccine, immune response to which is T-cel...... hiện toàn bộ
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
The HUGO Journal - Tập 3 - Trang 83-83 - 2010
27th HUGO-IABCR congress 2010: poster abstracts 5–7 October 2010, Singapore
The HUGO Journal - Tập 4 - Trang 65-77 - 2011
Translational genomics in personalized medicine – scientific challenges en route to clinical practice
The HUGO Journal - 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...... hiện toàn bộ
Tổng số: 23
- 1
- 2
- 3