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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.
eMERGE network --- Genome-Wide Association Study --- Electronic Medical Record --- Biobank --- population stratification --- precision medicine --- Imputation --- Loss-of-function variants --- phenome-wide association study --- Genetic risk score
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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.
eMERGE network --- Genome-Wide Association Study --- Electronic Medical Record --- Biobank --- population stratification --- precision medicine --- Imputation --- Loss-of-function variants --- phenome-wide association study --- Genetic risk score
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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.
eMERGE network --- Genome-Wide Association Study --- Electronic Medical Record --- Biobank --- population stratification --- precision medicine --- Imputation --- Loss-of-function variants --- phenome-wide association study --- Genetic risk score
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This Special Issue focuses on the current state of pharmacogenomics (PGx) and the extensive translational process, including the identification of functionally important PGx variation; the characterization of PGx haplotypes and metabolizer statuses, their clinical interpretation, clinical decision support, and the incorporation of PGx into clinical care.
Medicine --- Pharmacology --- pharmacogenomics --- return of results --- genetic counseling --- qualitative --- pharmacogenetics --- implementation --- pharmacogenetics service --- screening --- pre-emptive --- personalized medicine --- precision medicine --- community pharmacy --- pharmacogenomic testing --- genetic privacy --- pharmaco-economics --- polymorphisms --- pharmacogenes --- pharmacogenomic --- machine learning --- adaptation --- human evolution --- US Food and Drug Administration --- clinical actionability --- clinical translation --- chronic kidney disease --- CYP3A5 --- polymorphism --- progression --- pharmacogenomics (PGx) --- pediatrics --- best practice alerts (BPAs) --- electronic health records (EHR) --- genomic indicators --- clinical decision support (CDS) --- phenotype --- genotype --- polypharmacy --- chronic disease --- medication management --- electronic medical record --- artificial intelligence --- n/a
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This Special Issue focuses on the current state of pharmacogenomics (PGx) and the extensive translational process, including the identification of functionally important PGx variation; the characterization of PGx haplotypes and metabolizer statuses, their clinical interpretation, clinical decision support, and the incorporation of PGx into clinical care.
pharmacogenomics --- return of results --- genetic counseling --- qualitative --- pharmacogenetics --- implementation --- pharmacogenetics service --- screening --- pre-emptive --- personalized medicine --- precision medicine --- community pharmacy --- pharmacogenomic testing --- genetic privacy --- pharmaco-economics --- polymorphisms --- pharmacogenes --- pharmacogenomic --- machine learning --- adaptation --- human evolution --- US Food and Drug Administration --- clinical actionability --- clinical translation --- chronic kidney disease --- CYP3A5 --- polymorphism --- progression --- pharmacogenomics (PGx) --- pediatrics --- best practice alerts (BPAs) --- electronic health records (EHR) --- genomic indicators --- clinical decision support (CDS) --- phenotype --- genotype --- polypharmacy --- chronic disease --- medication management --- electronic medical record --- artificial intelligence --- n/a
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This Special Issue focuses on the current state of pharmacogenomics (PGx) and the extensive translational process, including the identification of functionally important PGx variation; the characterization of PGx haplotypes and metabolizer statuses, their clinical interpretation, clinical decision support, and the incorporation of PGx into clinical care.
Medicine --- Pharmacology --- pharmacogenomics --- return of results --- genetic counseling --- qualitative --- pharmacogenetics --- implementation --- pharmacogenetics service --- screening --- pre-emptive --- personalized medicine --- precision medicine --- community pharmacy --- pharmacogenomic testing --- genetic privacy --- pharmaco-economics --- polymorphisms --- pharmacogenes --- pharmacogenomic --- machine learning --- adaptation --- human evolution --- US Food and Drug Administration --- clinical actionability --- clinical translation --- chronic kidney disease --- CYP3A5 --- polymorphism --- progression --- pharmacogenomics (PGx) --- pediatrics --- best practice alerts (BPAs) --- electronic health records (EHR) --- genomic indicators --- clinical decision support (CDS) --- phenotype --- genotype --- polypharmacy --- chronic disease --- medication management --- electronic medical record --- artificial intelligence
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Cybercrime is increasingly exposing the health domain to growing risk. The push towards a strong connection of citizens to health services, through digitalization, has undisputed advantages. Digital health allows remote care, the use of medical devices with a high mechatronic and IT content with strong automation, and a large interconnection of hospital networks with an increasingly effective exchange of data. However, all this requires a great cybersecurity commitment—a commitment that must start with scholars in research and then reach the stakeholders. New devices and technological solutions are increasingly breaking into healthcare, and are able to change the processes of interaction in the health domain. This requires cybersecurity to become a vital part of patient safety through changes in human behaviour, technology, and processes, as part of a complete solution. All professionals involved in cybersecurity in the health domain were invited to contribute with their experiences. This book contains contributions from various experts and different fields. Aspects of cybersecurity in healthcare relating to technological advance and emerging risks were addressed. The new boundaries of this field and the impact of COVID-19 on some sectors, such as mhealth, have also been addressed. We dedicate the book to all those with different roles involved in cybersecurity in the health domain.
n/a --- personal health record --- emergency access --- access control --- blockchain --- hyperledger fabric --- hyperledger composer --- auditability --- privacy & --- security --- healthcare --- review --- electronic medical record --- cloud --- internet of things --- technology convergence --- eHealth --- medical devices --- digital health --- mHealth --- cyber-risk --- pacemaker --- artificial pancreas --- app --- regulation --- wearable device --- digital identity --- decentralized identity --- identity management --- smart contract --- Ethereum --- sexism --- social networks --- adolescence --- digital gender gap --- emotional well-being --- healthcare service --- body area network --- privacy --- authentication --- security protocol --- cybersecurity culture --- COVID-19 --- security assessment --- phishing --- health domain --- cybersecurity --- fuzzy cognitive maps --- telehealth --- scenario analysis --- planning --- contact tracing --- pandemic --- fall detection --- fall prediction --- fall prevention --- fall risk factors --- gait assessment --- 5G networks --- key performance indicators --- wireless communication --- awareness --- healthcare domain
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medical informatics --- health information technology --- bioinformatics --- telemedicine --- health information systems --- electronic medical record --- Medical informatics --- Medical Informatics. --- Periodicals. --- Computer Science, Medical --- Health Informatics --- Health Information Technology --- Informatics, Clinical --- Informatics, Medical --- Information Science, Medical --- Clinical Informatics --- Medical Computer Science --- Medical Information Science --- Health Information Technologies --- Informatics, Health --- Information Technology, Health --- Medical Computer Sciences --- Medical Information Sciences --- Science, Medical Computer --- Technology, Health Information --- Computational Biology --- Biomedical Technology --- American Recovery and Reinvestment Act --- Clinical informatics --- Health informatics --- Medical information science --- Information science --- Medicine --- Data processing --- Medical informatics. --- Iran. --- Êran --- I-lang --- I.R.A. --- I.R.I. --- Ir --- IRI --- Islamic Republic of Iran --- Islamische Republik Iran --- Islamskai͡a Respublika Iran --- Jumhūrī-i Islāmī-i Īrān --- Komarî Îslamî Êran --- Northern Tier --- Paras --- Paras-Iran --- Persia --- Persia-Iran --- República Islâmica do Ir --- Periodicals --- Medical Informatics
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Medical records --- Moral and ethical aspects. --- Medical Records. --- Electronic Health Records. --- Medical Records Systems, Computerized. --- Automated Medical Record System --- Automated Medical Record Systems --- Automated Medical Records System --- Computerized Medical Record System --- Computerized Medical Record Systems --- Computerized Medical Records System --- Computerized Patient Medical Records --- Medical Record System, Automated --- Medical Record System, Computerized --- Medical Record Systems, Automated --- Medical Record Systems, Computerized --- Medical Records System, Automated --- Medical Records System, Computerized --- Medical Records Systems, Automated --- Automated Medical Records Systems --- Computerized Medical Records Systems --- Forms and Records Control --- Computerized Medical Record --- Computerized Medical Records --- Electronic Health Record --- Medical Record, Computerized --- Medical Records, Computerized --- Electronic Medical Record --- Electronic Medical Records --- Health Record, Electronic --- Health Records, Electronic --- Medical Record, Electronic --- Medical Records, Electronic --- Medical Record Linkage --- Records, Medical --- Transcription, Medical --- Health Diaries --- Medical Transcription --- Diaries, Health --- Diary, Health --- Health Diary --- Medical Record --- Medical Transcriptions --- Record, Medical --- Transcriptions, Medical --- Clinical records --- Health records --- Hospital medical records --- Patient care records --- Communication in medicine --- Hospital records --- Electronic Health Record Data
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Cybercrime is increasingly exposing the health domain to growing risk. The push towards a strong connection of citizens to health services, through digitalization, has undisputed advantages. Digital health allows remote care, the use of medical devices with a high mechatronic and IT content with strong automation, and a large interconnection of hospital networks with an increasingly effective exchange of data. However, all this requires a great cybersecurity commitment—a commitment that must start with scholars in research and then reach the stakeholders. New devices and technological solutions are increasingly breaking into healthcare, and are able to change the processes of interaction in the health domain. This requires cybersecurity to become a vital part of patient safety through changes in human behaviour, technology, and processes, as part of a complete solution. All professionals involved in cybersecurity in the health domain were invited to contribute with their experiences. This book contains contributions from various experts and different fields. Aspects of cybersecurity in healthcare relating to technological advance and emerging risks were addressed. The new boundaries of this field and the impact of COVID-19 on some sectors, such as mhealth, have also been addressed. We dedicate the book to all those with different roles involved in cybersecurity in the health domain.
Medical equipment & techniques --- n/a --- personal health record --- emergency access --- access control --- blockchain --- hyperledger fabric --- hyperledger composer --- auditability --- privacy & --- security --- healthcare --- review --- electronic medical record --- cloud --- internet of things --- technology convergence --- eHealth --- medical devices --- digital health --- mHealth --- cyber-risk --- pacemaker --- artificial pancreas --- app --- regulation --- wearable device --- digital identity --- decentralized identity --- identity management --- smart contract --- Ethereum --- sexism --- social networks --- adolescence --- digital gender gap --- emotional well-being --- healthcare service --- body area network --- privacy --- authentication --- security protocol --- cybersecurity culture --- COVID-19 --- security assessment --- phishing --- health domain --- cybersecurity --- fuzzy cognitive maps --- telehealth --- scenario analysis --- planning --- contact tracing --- pandemic --- fall detection --- fall prediction --- fall prevention --- fall risk factors --- gait assessment --- 5G networks --- key performance indicators --- wireless communication --- awareness --- healthcare domain
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