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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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Abstract

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.

Infection and Inflammation: Potential Triggers of Sudden Infant Deaths

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889450497 Year: Pages: 94 DOI: 10.3389/978-2-88945-049-7 Language: English
Publisher: Frontiers Media SA
Subject: Medicine (General) --- Allergy and Immunology
Added to DOAB on : 2018-02-27 16:16:44
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There is a growing body of evidence that infectious agents or their products contribute to events leading to unexpected infant deaths. This issue summarizes the current information on the interactions between genetic background of the infant, environmental and developmental risk factors, and the microbial flora of the infant that could trigger lethal responses to common infections.

Molecular Mechanism of Alzheimer's Disease

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ISBN: 9783039214075 / 9783039214082 Year: Pages: 228 DOI: 10.3390/books978-3-03921-408-2 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Science (General) --- Biology
Added to DOAB on : 2019-12-09 11:49:16
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Alzheimer’s disease (AD) is an age-related neurological disease that affects tens of millions of people, in addition to their carers. Hallmark features of AD include plaques composed of amyloid beta, as well as neurofibrillary tangles of tau protein. However, despite more than a century of study, the cause of Alzheimer’s disease remains unresolved. The roles of amyloid beta and tau are being questioned and other causes of AD are now under consideration. The contributions of researchers, model organisms, and various hypotheses will be examined in this Special Issue.

Keywords

?-secretase --- amyloid beta --- calcium signaling --- drug target discovery --- endoplasmic reticulum --- inositol 1,4,5-trisphosphate receptor --- ion channel --- oxidative stress --- ryanodine receptor --- therapy --- amyloid-? oligomer --- protein aggregation --- A?O receptors --- Alzheimer’s disease --- neurodegeneration --- amyloid ? --- Alzheimer’s disease --- cognitive function --- dairy products --- dementia --- inflammation --- microglia --- Alzheimer’s disease --- yeast --- Tau --- amyloid ? --- ubiquitin --- aggregation --- oligomerization --- prion --- CDK5R1 --- lncRNAs --- Alzheimer’s disease --- miR-15/107 --- NEAT1 --- HOTAIR --- MALAT1 --- heat shock response --- heat shock protein --- Alzheimer’s disease --- beta amyloid --- yeast --- Alzheimer’s disease --- complement receptor 1 --- CR1 length polymorphism --- CR1 density --- complement C3b/C4b receptor --- complement --- dementia --- molecular biology --- neurosciences --- genetic risk --- Alzheimer’s disease --- brain glucose metabolism --- neuronal differentiation --- neuronal degeneration --- Prolyl isomerases --- Pin1 --- type 2 diabetes --- type 3 diabetes --- miR-34c --- dendritic spine --- Alzheimer’s disease --- Alzheimer’s disease --- positron emission tomography (PET) --- magnetic resonance imaging (MRI) --- Alzheimer’s disease --- cystathionine-?-lyase CTH gene --- DNA methylation --- epigenetics --- epigenome-wide association study --- methylome --- methylenetetrahydrofolate reductase MTHFR gene --- nutrition --- S-adenosylmethionine --- vitamin B complex --- Alzheimer’s disease --- sleep disturbance --- sleep fragmentation --- slow-wave sleep --- amyloid beta --- tau --- proteostasis --- default-mode network --- cognitive behavioral therapy for insomnia --- APOE gene --- apolipoprotein E --- DNA methylation --- mild cognitive impairment --- Hispanics

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