Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer - 2009
Ava Kwong, Laurence Wong, Hiu Yung Wong, Fian B.F. Law, Enders K.W. Ng, Yong Tang, William W.‐C. Chan, Dacita Suen, Changyong Choi, Lina Ho, K. H. Kwan, M. Poon, Ting Ting Wong, Kwok Keung Chan, Siu On Chan, Marcus Ying, Wing-cheong Chan, Edmond S.K., James M. Ford, Dee W. West
The GAMY Project: young people’s attitudes to genetics in the South Wales valleys Tập 4 - Trang 49-60 - 2011
Rachel Iredale, Kim Madden, Nicola Taverner, Juping Yu, Kevin McDonald
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...... hiện toàn bộ
Genetic determinants of immune-response to a polysaccharide vaccine for typhoid Tập 3 - Trang 17-30 - 2010
Partha P. Majumder, Herman F. Staats, Neeta Sarkar-Roy, Binuja Varma, Trina Ghosh, Sujit Maiti, K. Narayanasamy, Carol C. Whisnant, James L. Stephenson, Diane K. Wagener
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
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing - 2010
Hao Hu, Klaus Wrogemann, Vera Kalscheuer, Andreas Tzschach, Hugues Richard, Stefan A. Haas, Corinna Menzel, Melanie Bienek, Guy Froyen, Martine Raynaud, Hans Van Bokhoven, Jamel Chelly, Hilger Ropers, Wei Chen
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 ...... hiện toàn bộ
Translational genomics in personalized medicine – scientific challenges en route to clinical practice Tập 6 - Trang 1-9 - 2012
Marta Garcia Martinez de Lecea, Michael Rossbach
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
Intra-consortium data sharing in multi-national, multi-institutional genomic studies: gaps and guidance Tập 3 - Trang 11-14 - 2009
Jerome Amir Singh, Abdallah S. Daar
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
The extent of functionality in the human genome Tập 7 - Trang 1-4 - 2013
John S Mattick, Marcel E Dinger
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