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The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889198726 Year: Pages: 194 DOI: 10.3389/978-2-88919-872-6 Language: English
Publisher: Frontiers Media SA
Subject: Genetics --- Science (General)
Added to DOAB on : 2016-01-19 14:05:46
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This eBook contains the 19 articles that were part of a Special Topic in Frontiers in Genetics entitled “Genetics Research in Electronic Health Records Linked to DNA Biobanks”. The Special Issue was published on-line in 2014-2015 and contained papers representing the diverse research ongoing in the integration of electronic health records (EHR) with genomics through basic, clinical, and translational research. We have divided the eBook into four Chapters. Chapter 1 describes the Electronic Medical Records and Genomics (eMERGE) network and its contri-bution to genomics. It highlights methodological questions related to large data sets such as imputation and population stratification. Chapter 2 describes the results of genetic studies on different diseases for which all the phenotypic information was extracted from the EHR with highly specific ePhenotyping algorithms. Chapter 3 focuses on more complex analyses of the genome including copy number variants (CNV), pleiotropy com-bined with phenome-wide association studies (PheWAS), and epistasis (gene-gene interactions). Chapter 4 discusses the use of genetic data together with EHR-derived clinical data in clinical settings, and how to return genetic results to patients and providers. It also contains a comprehensive review on genetic risk scores. We have included mostly Original Research Articles in the eBook, but also Reviews and Methods papers on the relevant topics of analyzing and integrating genomic data. The release of this eBook is timely, since several countries are launching Precision Medicine initiatives. Precision Medicine is a new concept in patient care taking into account individual variability in genetic, environmental and lifestyle factors, when treating diseases or trying to prevent them from developing. It has become an important focus for biomedical, clinical and translational informatics. The papers presented in this eBook are well positioned to educate the readers about Precision Medicine and to demonstrate the potential study designs, methods, strategies, and applications where this type of research can be performed successfully. The ultimate goal is to improve diagnostics and provide better, more targeted care to the patient.

Decision-Making Experiments under Philosophical Analysis: Human Choice as a Challenge for Neuroscience

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889196685 Year: Pages: 123 DOI: 10.3389/978-2-88919-668-5 Language: English
Publisher: Frontiers Media SA
Subject: Neurology --- Science (General)
Added to DOAB on : 2016-08-16 10:34:25
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This introduction just aims to be a fast foreword to the special topic now turned into an e-book. The Editorial "Decision-Making Experiments under a Philosophical Analysis: Human Choice as a Challenge for Neuroscience" alongside with my opinion article "Neurophilosophical considerations on decision making: Pushing-up the frontiers without disregarding their foundations" play the real role of considering in more details the articles and the whole purpose of this e-book. What I must highlight in this foreword is that our intention with such a project was to deepen into the very foundations of our current paradigms in decision neuroscience and to philosophically moot its foundations and repercussions. Normal Science (a term coined by Philosopher Thomas Kuhn) works under a research consensus among a scientific community: A shared paradigm, consolidated methods, widespread convictions. Pragmatically, winning formulas must be kept, although, not at any cost. What differentiates a gifted and revolutionary scientist from a more bureaucratic colleague is the capacity and willingness of constantly reevaluating, depurating and refining his/her own paradigm. That is best strategy to avoid that a paradigm itself would gradually come under challenge. In my view, some achievements, in this sense, were brought about in our project. The e-book will be inspiring and informative for both neuroscientists that are concerned with the very foundations of their works and for philosophers that are not blind to empirical evidence. Kant once said: “Thoughts without content are empty, intuitions without concepts are blind”. Paraphrasing Kant we could say: Philosophy without science is empty, science without philosophy is blind.

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