Association of polymorphism in cytochrome P450 2C9 with susceptibility to head and neck cancer and treatment outcome
Publication date: 1 March 2014 Source:Applied & Translational Genomics, Volume 3, Issue 1 Author(s): Sunishtha S. Yadav , Shilpi Seth , Anwar J. Khan , Shailendra S. Maurya , Ankur Dhawan , Sidharth Pant , Mohan C. Pant , Devendra Parmar The present case–control study involving 750 cases and equal number of healthy controls investigates the association of polymorphism in cytochrome P450 2C9 (CYP2C9) with head and neck squamous cell carcinoma (HNSCC) and response in patients receiving chemotherapy or combination of radio-chemotherapy. The frequency of heterozygous or homozygous genotypes of CYP2C9*2 &a...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Multilevel D-loop PCR identification of hunting game
Publication date: 1 March 2014 Source:Applied & Translational Genomics, Volume 3, Issue 1 Author(s): V. Parkanyi , L. Ondruska , D. Vasicek , J. Slamecka The control region of mtDNA (D-loop) was used for hair samples of the five hunting game species identification: red deer (Cervus elaphus), roe deer (Capreolus capreolus), fallow deer (Dama dama), mouflon (Ovis aries musimon), and wild boar (Sus scrofa). For D-loop multilevel PCR detection scheme was applied in six primers (CE CVZV 1=5′-GATCACGAGCTTGATCACCA-3′; CE CVZV 2=5′-AGGAGTGGGCGATTTTAGGT-3′; DD CVZV 3=5′-CGCGTGAAACCAACAACCCGC-3′; DD CVZV ...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
P3G — 10years of toolbuilding: From the population biobank to the clinic
Publication date: 1 June 2014 Source:Applied & Translational Genomics, Volume 3, Issue 2 Author(s): Sylvie Ouellette , Anne Marie Tassé Over the past ten years, the Public Population Project in Genomics and Society (“P3G”) has grown as a consortium. It has expanded its range of services and resources to adapt to the ever-evolving needs of the research community. From its outset – when P3G first tackled the building of biobanks as resources as well as data cataloguing and harmonization for data integration – to its new mission and vision, it has continually developed the tools for the conceptualizatio...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Biobanking and translation of human genetics and genomics for infectious diseases
This article examines the role of biobanks in basic research of infectious disease genomics, as well as the relevance and applicability of biobanks in the translation of impending knowledge and the clinical uptake of knowledge of infectious diseases. Our research identifies potential fields of interaction between infectious disease genomics and biobanks, in line with global trends in the integration of genome-based knowledge into clinical practice. It also examines various networks and biobanks that specialize in infectious diseases (including HIV, HPV and Chlamydia trachomatis), and provides examples of successful researc...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Rare disease research: Breaking the privacy barrier
Publication date: 1 June 2014 Source:Applied & Translational Genomics, Volume 3, Issue 2 Author(s): Deborah Mascalzoni , Angelo Paradiso , Matts Hansson Due to the few patients affected, rare disease research has to count on international registries to exist in order to produce significant research outputs. Data sharing of registries is therefore a unique resource to allow rare disease research to flourish and any lost data will jeopardize the quality of an already extremely difficult research. The rules usually applied to research such as the right to withdraw or the need for specific consent for every use ...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Special Issue — From Biobanks to the Clinic
Publication date: 1 June 2014 Source:Applied & Translational Genomics, Volume 3, Issue 2 Author(s): Bartha Maria Knoppers , Ma'n H. Zawati , Eliza Cohen (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Online citizen science games: Opportunities for the biological sciences
Publication date: Available online 9 August 2014 Source:Applied & Translational Genomics Author(s): Vickie Curtis Recent developments in digital technologies and the rise of the Internet have created new opportunities for citizen science. One of these has been the development of online citizen science games where complex research problems have been re-imagined as online multiplayer computer games. Some of the most successful examples of these can be found within the biological sciences, for example, Foldit, Phylo and EteRNA. These games offer scientists the opportunity to crowdsource research problems, and to ...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Simultaneous genomic identification and profiling of a single cell using semiconductor-based next generation sequencing
Publication date: 1 September 2014 Source:Applied & Translational Genomics, Volume 3, Issue 3 Author(s): Manabu Watanabe , Junko Kusano , Shinsaku Ohtaki , Takashi Ishikura , Jin Katayama , Akira Koguchi , Michael Paumen , Yoshiharu Hayashi Combining single-cell methods and next-generation sequencing should provide a powerful means to understand single-cell biology and obviate the effects of sample heterogeneity. Here we report a single-cell identification method and seamless cancer gene profiling using semiconductor-based massively parallel sequencing. A549 cells (adenocarcinomic human alveolar basal e...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
The audacity of interpretation: Protecting patients or piling on?
Publication date: 1 September 2014 Source:Applied & Translational Genomics, Volume 3, Issue 3 Author(s): Misha Angrist (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Medical genomics: The intricate path from genetic variant identification to clinical interpretation
Publication date: 1 September 2014 Source:Applied & Translational Genomics, Volume 3, Issue 3 Author(s): B. Quintáns , A. Ordóñez-Ugalde , P. Cacheiro , A. Carracedo , M.J. Sobrido The field of medical genomics involves translating high throughput genetic methods to the clinic, in order to improve diagnostic efficiency and treatment decision making. Technical questions related to sample enrichment, sequencing methodologies and variant identification and calling algorithms, still need careful investigation in order to validate the analytical step of next generation sequencing techniques for clinical appl...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
“Toward a system plan for transforming cancer care to a molecular-based approach”: Recommendations from an expert panel
Publication date: 1 September 2014 Source:Applied & Translational Genomics, Volume 3, Issue 3 Author(s): Anthony Flynn , Dawn Van Dam (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Quality standards for DNA sequence variation databases to improve clinical management under development in Australia
Publication date: 1 September 2014 Source:Applied & Translational Genomics, Volume 3, Issue 3 Author(s): B. Bennetts , M. Caramins , A. Hsu , C. Lau , S. Mead , C. Meldrum , T.D. Smith , G. Suthers , G.R. Taylor , R.G.H. Cotton , V. Tyrrell Despite the routine nature of comparing sequence variations identified during clinical testing to database records, few databases meet quality requirements for clinical diagnostics. To address this issue, The Royal College of Pathologists of Australasia (RCPA) in collaboration with the Human Genetics Society of Australasia (HGSA), and the Human Variome Project (HV...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Will the future of knowledge work automation transform personalized medicine?
Publication date: 1 September 2014 Source:Applied & Translational Genomics, Volume 3, Issue 3 Author(s): Gauri Naik , Sanika S. Bhide Today, we live in a world of ‘information overload’ which demands high level of knowledge-based work. However, advances in computer hardware and software have opened possibilities to automate ‘routine cognitive tasks’ for knowledge processing. Engineering intelligent software systems that can process large data sets using unstructured commands and subtle judgments and have the ability to learn ‘on the fly’ are a significant step towards automation of knowledge work....
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Re: Association of polymorphism in cytochrome P450 2C9 with susceptibility to head and neck cancer and treatment outcome: Pragmatic use of Hardy-Weinberg equilibrium and statistical interaction analysis
Publication date: 1 September 2014 Source:Applied & Translational Genomics, Volume 3, Issue 3 Author(s): Sandeep Kumar Singh (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Translational genomics
Publication date: 1 September 2014 Source:Applied & Translational Genomics, Volume 3, Issue 3 Author(s): Martin Kussmann , Jim Kaput The term “Translational Genomics” reflects both title and mission of this new journal. “Translational” has traditionally been understood as “applied research” or “development”, different from or even opposed to “basic research”. Recent scientific and societal developments have triggered a re-assessment of the connotation that “translational” and “basic” are either/or activities: translational research nowadays aims at feeding the best science into app...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
