The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research
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...
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| Materyal Türü: | Online |
| Dil: | İngilizce |
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Frontiers Media SA
2021
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| Online Erişim: | 18259 |
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| _version_ | 1869528652030410752 |
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| author | Mariza de Andrade Helena Kuivaniemi Marylyn D. Ritchie |
| author_browse | Helena Kuivaniemi Mariza de Andrade Marylyn D. Ritchie |
| author_facet | Mariza de Andrade Helena Kuivaniemi Marylyn D. Ritchie |
| author_sort | Mariza de Andrade |
| collection | Directory of Open Access Books |
| description | 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. |
| format | Online |
| id | doab-20.500.12854ir-47950 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| publisher | Frontiers Media SA |
| publisherStr | Frontiers Media SA |
| record_format | ojs |
| spelling | doab-20.500.12854ir-479502024-04-05T12:35:11Z The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research Mariza de Andrade Helena Kuivaniemi Marylyn D. Ritchie QH426-470 Q1-390 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 thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) 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. 2021-02-11T13:58:31Z 2021-02-11T13:58:31Z 2016-01-19 14:05:46 2016 book 18259 16648714 9782889198726 https://directory.doabooks.org/handle/20.500.12854/47950 eng Frontiers Research Topics image/jpeg Attribution 4.0 International http://www.frontiersin.org/books/The_Foundation_of_Precision_Medicine_Integration_of_Electronic_Health_Records_with_Genomics_Through_1/914#nogo http://journal.frontiersin.org/researchtopic/2198/genetics-research-in-electronic-health-records-linked-to-dna-biobanks Frontiers Media SA 10.3389/978-2-88919-872-6 10.3389/978-2-88919-872-6 bf5ce210-e72e-4860-ba9b-c305640ff3ae 9782889198726 194 open access |
| spellingShingle | QH426-470 Q1-390 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 thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) Mariza de Andrade Helena Kuivaniemi Marylyn D. Ritchie The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research |
| title | The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research |
| title_full | The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research |
| title_fullStr | The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research |
| title_full_unstemmed | The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research |
| title_short | The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research |
| title_sort | foundation of precision medicine integration of electronic health records with nenomics through basic clinical and translational research |
| topic | QH426-470 Q1-390 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 thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) |
| topic_facet | QH426-470 Q1-390 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 thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) |
| url | 18259 |
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