Pharmacogenomics for Infectious Diseases in Sub-Saharan Africa: Successes and Opportunities
Publication date: Available online 7 May 2016 Source:Applied & Translational Genomics Author(s): Mamoonah Chaudhry, Marco Alessandrini, Michael S. Pepper (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - May 6, 2016 Category: Genetics & Stem Cells Source Type: research
Proceedings of a Sickle Cell Disease Ontology workshop — Towards the first comprehensive ontology for Sickle Cell Disease
The objective of the workshop was to bring together experts in SCD from around the world to contribute their expertise to the development of various aspects of the SCD ontology. (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - March 21, 2016 Category: Genetics & Stem Cells Source Type: research
Proceedings of a Sickle Cell Disease Ontology Workshop – Towards the First Comprehensive Ontology for Sickle Cell Disease
The objective of the workshop was to bring together experts in SCD from around the world to contribute their expertise to the development of various aspects of the SCD ontology. (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - March 17, 2016 Category: Genetics & Stem Cells Source Type: research
SeeHaBITaT: A server on bioinformatics applications for tospoviruses and other species
Publication date: Available online 12 March 2016 Source:Applied & Translational Genomics Author(s): Seethalakshmi Sakthivel, S.K.M. Habeeb Plant viruses are important limiting factors in agricultural productivity. Tospovirus is one of the severe plant pathogens, causing damage to economically important food and ornamental crops worldwide through thrips as vectors. Database application resources exclusively on this virus would help to design better control measures, which aren't available. SeeHaBITaT is a unique and exclusive web based server providing work bench to perform computational research on tospovir...
Source: Applied and Translational Genomics - March 14, 2016 Category: Genetics & Stem Cells Source Type: research
Limited resources of genome sequencing in developing countries: Challenges and solutions
Publication date: Available online 10 March 2016 Source:Applied & Translational Genomics Author(s): Mohamed Helmy, Mohamed Awad, Kareem A. Mosa The differences between countries in national income, growth, human development and many other factors are used to classify countries into developed and developing countries. There are several classifications systems that use different sets of measures and criteria. The most common classifications are the United Nations (UN) and the World Bank (WB) systems. The UN classification system uses the UN Human Development Index (HDI), an indicator that uses statistic of ...
Source: Applied and Translational Genomics - March 11, 2016 Category: Genetics & Stem Cells Source Type: research
Translating translational medicine into global health equity: What is needed?
Publication date: Available online 10 March 2016 Source:Applied & Translational Genomics Author(s): Carol Isaacson Barash While genomics, and other omics research is rapidly advancing in the US and Europe progress has been slower in less resourced countries. The imbalance has given rise to concern about whether the benefits of these advances, new and better tests, treatments, risk identification, prevention strategies will be shared and available to those living in less resourced reaches of the globe. In effort to give voice to researchers, an informal survey about barriers to advancing translational medicine...
Source: Applied and Translational Genomics - March 11, 2016 Category: Genetics & Stem Cells Source Type: research
Tau protein as a biomarker for asphyxia: A possible forensic tool?
In this report we show the affection of the normal pattern of tau and pathological aggregates of tau in the case of brain hypoxia. This may give new clues to asphyxial death investigations. (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - March 4, 2016 Category: Genetics & Stem Cells Source Type: research
‘Only a click away — DTC genetics for ancestry, health, love…and more: A view of the business and regulatory landscape’
Publication date: Available online 2 February 2016 Source:Applied & Translational Genomics Author(s): Andelka M. Phillips I provide an overview of the current state of the direct-to-consumer (DTC) genetic testing industry and the challenges that different types of testing pose for regulation. I consider the variety of services currently available. These range from health and ancestry tests to those for child talent, paternity, and infidelity. In light of the increasingly blurred lines among different categories of testing, I call for a broader discussion of DTC governance. I stress the importance of shifting ...
Source: Applied and Translational Genomics - February 14, 2016 Category: Genetics & Stem Cells Source Type: research
Metabolic modeling with big data and the gut microbiome
Publication date: Available online 5 February 2016 Source:Applied & Translational Genomics Author(s): Jaeyun Sung, Vanessa Hale, Annette C. Merkel, Pan-Jun Kim, Nicholas Chia The recent advances in high-throughput ‘omics technologies have enabled researchers to explore the intricacies of the human microbiome. On the clinical front, the gut microbial community has been the focus of many biomarker-discovery studies. While the recent deluge of high-throughput data in microbiome research has been vastly informative and groundbreaking, we have yet to capture the full potential of ‘omics-based approache...
Source: Applied and Translational Genomics - February 5, 2016 Category: Genetics & Stem Cells Source Type: research
Phenotype with a Side of Genotype, Please: Patients, Parents and Priorities in Rare Genetic Disease
Publication date: Available online 1 February 2016 Source:Applied & Translational Genomics Author(s): Christy Collins As the parent and caregiver of a child with an ultra-rare disease and advocate for others with the same condition, I discuss the importance of phenotyping in rare disease research. I emphasize the need for more clinical geneticists, deeper and more intentional integration of clinical genetics in complex patient care, and a greater appreciation of patients and families as an informational resource. (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - February 2, 2016 Category: Genetics & Stem Cells Source Type: research
Beyond clinical utility: The multiple values of DTC genetics
Publication date: Available online 1 February 2016 Source:Applied & Translational Genomics Author(s): Mauro Turrini, Barbara Prainsack One point of consensus in the otherwise very controversial discussion about the benefits and dangers of DTC genetics in the health domain is the lack of substantial clinical utility. At the same time, both the empirical and conceptual literature indicate that health-related DTC tests can have value and utility outside of the clinic. We argue that a broader and multi-faceted conceptualization of utility and value would enrich the ethical and social discussion of DTC testing i...
Source: Applied and Translational Genomics - February 2, 2016 Category: Genetics & Stem Cells Source Type: research
How geisinger made the case for an institutional duty to return genomic results to biobank participants
Publication date: Available online 1 February 2016 Source:Applied & Translational Genomics Author(s): W. Andrew Faucett, F. Daniel Davis (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - February 2, 2016 Category: Genetics & Stem Cells Source Type: research
An old problem in a new age: Revisiting the clinical dilemma of misattributed paternity
Publication date: Available online 1 February 2016 Source:Applied & Translational Genomics Author(s): Laura Hercher, Leila Jamal Clinical genetics has wrestled with the problem of misattributed paternity for decades. While there are no clear directives on policy, surveys suggest that genetics professionals are inclined to avoid disclosure when possible. Changes associated with the increased use of genomic testing will alter the context and may limit the benefits of non-disclosure. Multi-site testing will preclude the uncertainty often associated with single-gene testing. Increased use of genetic testing in ...
Source: Applied and Translational Genomics - February 2, 2016 Category: Genetics & Stem Cells Source Type: research
Ethical issues in consumer genome sequencing: Use of consumers' samples and data
In this study, we analysed the websites of four DTC GT companies offering WGS and/or WES with regard to their policies governing storage and future use of consumers' data and samples. The results are discussed in relation to recommendations and guiding principles such as the “Statement of the European Society of Human Genetics on DTC GT for health-related purposes” (2010) and the “Framework for responsible sharing of genomic and health-related data” (Global Alliance for Genomics and Health, 2014). The analysis reveals that some companies may store and use consumers' samples or sequencing data for unspecified resear...
Source: Applied and Translational Genomics - February 2, 2016 Category: Genetics & Stem Cells Source Type: research
Personal genomics: Where are We now?
Publication date: Available online 1 February 2016 Source:Applied & Translational Genomics Author(s): Misha Angrist (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - February 2, 2016 Category: Genetics & Stem Cells Source Type: research
