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  • 机译 转化医学中的大数据问题。回顾我们去过的地方以及未来的可能性
    • 作者:Les Jordan
    • 刊名:Applied Translational Genomics
    • 2015年第-1期
    摘要:Understanding the parallel evolutions of Big Data and Translational Medicine, and the types of disruptive technology that bring them together, requires a look back at their evolution and a discussion of the hindrances in applying big data techniques to translational medicine. We will then take a look into the future, at the concept of the “Complete Health Record” and how that may change the very nature of translational medicine.
  • 机译 授权的基因组社区:利用生物信息学平台作为公民与科学家的协作工具
    摘要:There is on-going effort in the biomedical research community to leverage Next Generation Sequencing (NGS) technology to identify genetic variants that affect our health. The main challenge facing researchers is getting enough samples from individuals either sick or healthy – to be able to reliably identify the few variants that are causal for a phenotype among all other variants typically seen among individuals. At the same time, more and more individuals are having their genome sequenced either out of curiosity or to identify the cause of an illness. These individuals may benefit from of a way to view and understand their data. QIAGEN's Ingenuity Variant Analysis is an online application that allows users with and without extensive bioinformatics training to incorporate information from published experiments, genetic databases, and a variety of statistical models to identify variants, from a long list of candidates, that are most likely causal for a phenotype as well as annotate variants with what is already known about them in the literature and databases. Ingenuity Variant Analysis is also an information sharing platform where users may exchange samples and analyses. The Empowered Genome Community (EGC) is a new program in which QIAGEN is making this on-line tool freely available to any individual who wishes to analyze their own genetic sequence. EGC members are then able to make their data available to other Ingenuity Variant Analysis users to be used in research. Here we present and describe the Empowered Genome Community in detail. We also present a preliminary, proof-of-concept study that utilizes the 200 genomes currently available through the EGC. The goal of this program is to allow individuals to access and understand their own data as well as facilitate citizen–scientist collaborations that can drive research forward and spur quality scientific dialogue in the general public.
  • 机译 原子位和细胞
    • 作者:David Glazer
    • 刊名:Applied Translational Genomics
    • 2015年第-1期
    摘要:
  • 机译 开发教育性的iPhoneAndroid和Windows智能手机跨平台应用程序以促进对临床基因组学术语的理解
    摘要:
  • 机译 OncDRS:整合的临床和基因组数据平台可用于转化研究和精准医学
    摘要:We live in the genomic era of medicine, where a patient's genomic/molecular data is becoming increasingly important for disease diagnosis, identification of targeted therapy, and risk assessment for adverse reactions. However, decoding the genomic test results and integrating it with clinical data for retrospective studies and cohort identification for prospective clinical trials is still a challenging task. In order to overcome these barriers, we developed an overarching enterprise informatics framework for translational research and personalized medicine called Synergistic Patient and Research Knowledge Systems (SPARKS) and a suite of tools called Oncology Data Retrieval Systems (OncDRS). OncDRS enables seamless data integration, secure and self-navigated query and extraction of clinical and genomic data from heterogeneous sources. Within a year of release, the system has facilitated more than 1500 research queries and has delivered data for more than 50 research studies.
  • 机译 基因组解释:建议临床相关
    • 作者:Michael M. Segal
    • 刊名:Applied Translational Genomics
    • 2015年第-1期
    摘要:
  • 机译 跨学科培训以建立精准医学信息学人才队伍
    摘要:The proposed Precision Medicine Initiative has the potential to transform medical care in the future through a shift from interventions based on evidence from population studies and empiric response to ones that account for a range of individual factors that more reliably predict response and outcomes for the patient. Many things are needed to realize this vision, but one of the most critical is an informatics workforce that has broad interdisciplinary training in basic science, applied research and clinical implementation. Current approaches to informatics training do not support this requirement. We present a collaborative model of training that has the potential to produce a workforce prepared for the challenges of implementing precision medicine.
  • 机译 培养非洲生物医学研究的生物信息学专业知识
    摘要:Research in bioinformatics has a central role in helping to advance biomedical research. However, its introduction to Africa has been met with some challenges (such as inadequate infrastructure, training opportunities, research funding, human resources, biorepositories and databases) that have contributed to the slow pace of development in this field across the continent. Fortunately, recent improvements in areas such as research funding, infrastructural support and capacity building are helping to develop bioinformatics into an important discipline in Africa. These contributions are leading to the establishment of world-class research facilities, biorepositories, training programmes, scientific networks and funding schemes to improve studies into disease and health in Africa. With increased contribution from all stakeholders, these developments could be further enhanced. Here, we discuss how the recent developments are contributing to the advancement of bioinformatics in Africa.
  • 机译 扩大参与将是加强非洲生物信息学和基因组学研究的关键
    摘要:Bioinformatics and genome science (BGS) are gradually gaining roots in Africa, contributing to studies that are leading to improved understanding of health, disease, agriculture and food security. While a few African countries have established foundations for research and training in these areas, BGS appear to be limited to only a few institutions in specific African countries. However, improving the disciplines in Africa will require pragmatic efforts to expand training and research partnerships to scientists in yet-unreached institutions. Here, we discuss the need to expand BGS programmes in Africa, and propose mechanisms to do so.
  • 机译 tranSMART Foundation Datathon 1.0:跨神经退行性疾病的挑战
    摘要:
  • 机译 应用和翻译神经基因组学
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  • 机译 神经基因组学:非洲整合神经科学基因组学和生物信息学研究的机会
    摘要:Modern genomic approaches have made enormous contributions to improving our understanding of the function, development and evolution of the nervous system, and the diversity within and between species. However, most of these research advances have been recorded in countries with advanced scientific resources and funding support systems. On the contrary, little is known about, for example, the possible interplay between different genes, non-coding elements and environmental factors in modulating neurological diseases among populations in low-income countries, including many African countries. The unique ancestry of African populations suggests that improved inclusion of these populations in neuroscience-related genomic studies would significantly help to identify novel factors that might shape the future of neuroscience research and neurological healthcare. This perspective is strongly supported by the recent identification that diseased individuals and their kindred from specific sub-Saharan African populations lack common neurological disease-associated genetic mutations. This indicates that there may be population-specific causes of neurological diseases, necessitating further investigations into the contribution of additional, presently-unknown genomic factors. Here, we discuss how the development of neurogenomics research in Africa would help to elucidate disease-related genomic variants, and also provide a good basis to develop more effective therapies. Furthermore, neurogenomics would harness African scientists' expertise in neuroscience, genomics and bioinformatics to extend our understanding of the neural basis of behaviour, development and evolution.
  • 机译 神经基因组学:加纳的挑战和机遇
    摘要:The application of genomic tools and technologies has shown the potential to help improve healthcare and our understanding of disease mechanisms. While genomic tools are increasingly being applied to research on infectious diseases, malaria and neglected tropical diseases in Africa, an area that has seen little application of genomic approaches on this continent is neuroscience. In this article, we examined the prospects of developing neurogenomics research and its clinical use in Ghana, one of the African countries actively involved in genomics research. We noted that established international research funding sources and foundations in genomic research such as H3ABioNet nodes established at a couple of research centres in Ghana provide excellent platforms for extending the usage of genomic tools and techniques to neuroscience-related research areas. However, existing challenges such as the (i) lack of degree programmes in neuroscience, genomics and bioinformatics; (ii) low availability of infrastructure and appropriately-trained scientists; and (iii) lack of local research funding opportunities, need to be addressed. To promote and safeguard the long-term sustainability of neurogenomics research in the country, the impact of the existing challenges and possible ways of addressing them have been discussed.
  • 机译 神经基因组学:埃及的观点
    摘要:
  • 机译 神经遗传学:伦理学神经科学和基因组学交叉领域的新兴学科
    • 作者:Turhan Canli
    • 刊名:Applied Translational Genomics
    • 2015年第-1期
    摘要:The analysis of ethical, legal, and social implications (ELSI) associated with genetics (“genethics”) has focused on traditional concerns in bioethics, such as privacy and informed consent. The analysis of ELSI associated with neuroscience (“neuroethics”) has focused on concerns related to personhood, such as free will or cognitive enhancement. With neurogenomics coming of age, this is an appropriate time to attend to the set of novel concerns that arises when we consider the confluence of these two lines of research. I call this area of ethics inquiry “neurogenethics”, map out the problem space, and highlight future areas of inquiry related to genome editing and gene therapy, optogenetics and memory manipulation, and genomic identity and online communities.
  • 机译 青少年精神病学中与遗传咨询相关的伦理问题
    摘要:Genetic counseling is a well-established healthcare discipline that provides individuals and families with health information about disorders that have a genetic component in a supportive counseling encounter. It has recently been applied in the context of psychiatric disorders (like schizophrenia, bipolar disorder, schizoaffective disorder, obsessive compulsive disorder, depression and anxiety) that typically appear sometime during later childhood through to early adulthood. Psychiatric genetic counseling is emerging as an important service that fills a growing need to reframe understandings of the causes of mental health disorders. In this review, we will define psychiatric genetic counseling, and address important ethical concerns (we will particularly give attention to the principles of autonomy, beneficence, non-maleficence and justice) that must be considered in the context of its application in adolescent psychiatry, whilst integrating evidence regarding patient outcomes from the literature. We discuss the developing capacity and autonomy of adolescents as an essential and dynamic component of genetic counseling provision in this population and discuss how traditional viewpoints regarding beneficence and non-maleficence should be considered in the unique situation of adolescents with, or at risk for, psychiatric conditions. We argue that thoughtful and tailored counseling in this setting can be done in a manner that addresses the important health needs of this population while respecting the core principles of biomedical ethics, including the ethic of care.
  • 机译 慢性脑灌注不足大鼠神经变性中氧化还原状态的研究
    摘要:Aging related reduction in cerebral blood flow (CBF) has been linked with neurodegenerative disorders including Alzheimer's disease and dementia. Experimentally, a condition of chronic cerebral hypoperfusion due to reduced CBF can be induced by permanent bilateral occlusion of common carotid arteries (2-vessel occlusion, 2VO) in rats. Since oxidative stress, leading to neuronal apoptosis and death, is one of the mechanisms, which is thought to play a significant role in chronic degenerative neurological disorders, the present study was planned to assess the ROS status by measuring the levels of anti-oxidant enzymes that might occur during chronic cerebral hypoperfusion. Antioxidant enzymes namely glutathione peroxidase (GPx), superoxide dismutase (SOD), and catalase were measured in the brain tissue at eight weeks of 2VO induction in rats. Results show significantly elevated levels of GPx, SOD, and catalase enzymes as compared with the control group. It is possible that compensatory rise in antioxidant enzymes occurs in response to increased oxidative stress following ischemic insult.
  • 机译 靶向NGS符合专家的临床特征:有效诊断11型痉挛性截瘫
    摘要:Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this group of disorders includes gene panel and exome sequencing, in this sample only the spatacsin gene region was captured and subsequently searched for mutations. Two probably pathogenic variants were quickly and clearly identified, confirming the diagnosis of SPG11. This case illustrates how combination of expert clinical characterization with highly oriented NGS protocols leads to a fast, cost-efficient diagnosis, minimizing the risk of findings with unclear significance.
  • 机译 NDUFA 12L线粒体复合体-I装配因子:对tauopathies的影响。
    摘要:There is a strong correlation between taupathies and the development and progression of neurodegenerative disorders. Abnormal tau becomes hyperphosphorylated and dissociated from microtubules with the aggregation of intracellular tau aggregates within the patient's brain. The current review is divided into two broad sections. In the first section we discuss the molecular biology and the clinicopathologic features of taupathies. While in the second section we discuss the relationship between mitochondrial complex-I and taupathies. Polymorphism in NDUFA12L may be a crucial factor for development of neurodegenerative taupathies. Thus NDUFA12L screening may be an early biomarker for identifying risk groups for such disorders.
  • 机译 南非人群中利培酮相关的药物不良反应和CYP2D6多态性
    摘要:BackgroundContradictory information exists regarding the influence of CYP2D6 polymorphisms on adverse drug reactions (ADRs) (extrapyramidal symptoms (EPS) and weight gain) related to risperidone treatment. This prompted us to evaluate the influence of CYP2D6 genetic variation in a cohort of South African patients who presented with marked movement disorders and/or weight gain while on risperidone treatment.

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