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Applied & Translational Genomics

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https://www.readbyqxmd.com/read/27668172/barriers-to-clinical-adoption-of-next-generation-sequencing-perspectives-of-a-policy-delphi-panel
#1
Donna A Messner, Jennifer Al Naber, Pei Koay, Robert Cook-Deegan, Mary Majumder, Gail Javitt, Patricia Deverka, Rachel Dvoskin, Juli Bollinger, Margaret Curnutte, Subhashini Chandrasekharan, Amy McGuire
This research aims to inform policymakers by engaging expert stakeholders to identify, prioritize, and deliberate the most important and tractable policy barriers to the clinical adoption of next generation sequencing (NGS). A 4-round Delphi policy study was done with a multi-stakeholder panel of 48 experts. The first 2 rounds of online questionnaires (reported here) assessed the importance and tractability of 28 potential barriers to clinical adoption of NGS across 3 major policy domains: intellectual property, coverage and reimbursement, and FDA regulation...
September 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27668171/a-systems-approach-to-personalised-nutrition-report-on-the-keystone-symposium-human-nutrition-environment-and-health
#2
Michael Maher, Amy M Pooler, James Kaput, Martin Kussmann
No abstract text is available yet for this article.
September 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27668170/metabolic-modeling-with-big-data-and-the-gut-microbiome
#3
REVIEW
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 approaches. Realizing the promise of multi-omics data will require integration of disparate omics data, as well as a biologically relevant, mechanistic framework - or metabolic model - on which to overlay these data...
September 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27668169/standardization-and-quality-management-in-next-generation-sequencing
#4
REVIEW
Christoph Endrullat, Jörn Glökler, Philipp Franke, Marcus Frohme
DNA sequencing continues to evolve quickly even after > 30 years. Many new platforms suddenly appeared and former established systems have vanished in almost the same manner. Since establishment of next-generation sequencing devices, this progress gains momentum due to the continually growing demand for higher throughput, lower costs and better quality of data. In consequence of this rapid development, standardized procedures and data formats as well as comprehensive quality management considerations are still scarce...
September 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27668168/omics-challenges-and-unmet-translational-needs
#5
EDITORIAL
Carol Isaacson Barash
No abstract text is available yet for this article.
September 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27556007/addressing-ethical-challenges-in-the-genetics-substudy-of-the-national-eye-survey-of-trinidad-and-tobago-gsnestt
#6
Allana N Roach, Tasanee Braithwaite, Christine Carrington, Elysse Marcellin, Subash Sharma, Aroon Hingorani, Juan P Casas, Michael A Hauser, R Rand Allingham, Samuel S Ramsewak, Rupert Bourne
BACKGROUND: The conduct of international collaborative genomics research raises distinct ethical challenges that require special consideration, especially if conducted in settings that are research-naïve or resource-limited. Although there is considerable literature on these issues, there is a dearth of literature chronicling approaches taken to address these issues in the field. Additionally no previous ethical guidelines have been developed to support similar research in Trinidad and Tobago...
June 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27354940/translating-translational-medicine-into-global-health-equity-what-is-needed
#7
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, namely new and better tests, treatments, risk identification, and 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 was administered to attendees of the 11th Asia Pacific Conference on Human Genetics, 2015, Hanoi...
June 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27354939/implementation-of-genomic-medicine-in-sri-lanka-initial-experience-and-challenges
#8
Nirmala D Sirisena, Nilaksha Neththikumara, Kalum Wetthasinghe, Vajira H W Dissanayake
The recent advances in next generation sequencing technologies have made it possible to implement genomic medicine in developing countries such as Sri Lanka where capacity for utilization is limited. This paper aims to describe our initial experience and challenges faced in integrating genomic medicine into routine clinical practice. Using the Illumina MiSeq Next generation sequencing (NGS) platform and an in-house developed bioinformatics pipeline/workflow, we successfully implemented clinical exome sequencing for rare disorders, complex disorders with unusual coexisting phenotypes, and multigene cancer panel testing for inherited cancer syndromes...
June 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27354938/seehabitat-a-server-on-bioinformatics-applications-for-tospoviruses-and-other-species
#9
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 tospoviruses and its species. SeeHaBITaT hosts Tospoviruses specific database Togribase, MOLBIT, SRMBIT and SS with PDB...
June 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27354937/proceedings-of-a-sickle-cell-disease-ontology-workshop-towards-the-first-comprehensive-ontology-for-sickle-cell-disease
#10
Nicola Mulder, Victoria Nembaware, Adekunle Adekile, Kofi A Anie, Baba Inusa, Biobele Brown, Andrew Campbell, Furahini Chinenere, Catherine Chunda-Liyoka, Vimal K Derebail, Amy Geard, Kais Ghedira, Carol M Hamilton, Neil A Hanchard, Melissa Haendel, Wayne Huggins, Muntaser Ibrahim, Simon Jupp, Karen Kengne Kamga, Jennifer Knight-Madden, Philomène Lopez-Sall, Mamana Mbiyavanga, Deogratias Munube, Damian Nirenberg, Obiageli Nnodu, Solomon Fiifi Ofori-Acquah, Kwaku Ohene-Frempong, Kenneth Babu Opap, Sumir Panji, Miriam Park, Gift Pule, Charmaine Royal, Raphael Sangeda, Bamidele Tayo, Marsha Treadwell, Léon Tshilolo, Ambroise Wonkam
Sickle cell disease (SCD) is a debilitating single gene disorder caused by a single point mutation that results in physical deformation (i.e. sickling) of erythrocytes at reduced oxygen tensions. Up to 75% of SCD in newborns world-wide occurs in sub-Saharan Africa, where neonatal and childhood mortality from sickle cell related complications is high. While SCD research across the globe is tackling the disease on multiple fronts, advances have yet to significantly impact on the health and quality of life of SCD patients, due to lack of coordination of these disparate efforts...
June 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27354936/tau-protein-as-a-biomarker-for-asphyxia-a-possible-forensic-tool
#11
Mohamed Salama, Wael M Y Mohamed
Asphyxial death has been a problem for forensic investigations due to the absence of a validated biomarker for the diagnosis of this event. Recently, research on brain affection by asphyxia raised hopes on the possible use of CNS markers for asphyxia. The cytoskeletal proteins seem to be attractive targets as they are vulnerable to hypoxia and can be affected in asphyxial deaths. Tau, an important cytoskeletal protein, showed affection in many neurodegenerative disorders and recently in some acute incidences like trauma and brain ischemia...
June 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27354935/limited-resources-of-genome-sequencing-in-developing-countries-challenges-and-solutions
#12
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 classification 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 life expectancy, education, and income per capita for countries' classification...
June 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27354934/pharmacogenomics-for-infectious-diseases-in-sub-saharan-africa-successes-and-opportunities
#13
Mamoonah Chaudhry, Marco Alessandrini, Michael S Pepper
No abstract text is available yet for this article.
June 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27354933/unsung-heroes-genomic-successes-in-the-developing-world
#14
Vajira H W Dissanayake, Carol Isaacson Barash
No abstract text is available yet for this article.
June 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27047762/reflections-on-my-daughter-s-dna
#15
Hugh Young Rienhoff
No abstract text is available yet for this article.
March 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27047761/phenotype-with-a-side-of-genotype-please-patients-parents-and-priorities-in-rare-genetic-disease
#16
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.
March 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27047760/life-as-a-numerator-putting-the-person-in-personal-genomics
#17
Sharon F Terry
No abstract text is available yet for this article.
March 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27047759/an-old-problem-in-a-new-age-revisiting-the-clinical-dilemma-of-misattributed-paternity
#18
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 clinical and non-clinical settings will create new opportunities for the subsequent unmasking of misattributed relationships, as will the presence of test results in the electronic medical record...
March 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27047758/how-geisinger-made-the-case-for-an-institutional-duty-to-return-genomic-results-to-biobank-participants
#19
W Andrew Faucett, F Daniel Davis
No abstract text is available yet for this article.
March 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/27047757/exomes-for-we-but-not-for-thee
#20
Anonymous
No abstract text is available yet for this article.
March 2016: Applied & Translational Genomics
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