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Record Nr. |
UNINA9910166646703321 |
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Autore |
Andrade Mariza de |
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Titolo |
The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research |
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Pubbl/distr/stampa |
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Descrizione fisica |
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1 online resource (194 p.) |
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Collana |
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Frontiers Research Topics |
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Materiale a stampa |
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Livello bibliografico |
Monografia |
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Sommario/riassunto |
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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 |
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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. |
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Record Nr. |
UNINA9910635383003321 |
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Autore |
Böer-Auer Almut |
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Titolo |
Pattern Analysis for Histopathologic Diagnosis of Melanocytic Lesions : A Guide to Practical Dermatopathology / / by Almut Böer-Auer, Harald Kittler, Philipp Tschandl |
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Cham : , : Springer International Publishing : , : Imprint : Springer, , 2022 |
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ISBN |
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Edizione |
[1st ed. 2022.] |
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Descrizione fisica |
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1 online resource (276 pages) |
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Disciplina |
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Materiale a stampa |
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Livello bibliografico |
Monografia |
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Nota di bibliografia |
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Includes bibliographical references and index. |
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Nota di contenuto |
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Introduction -- Historical perspective -- Classifications -- Pattern analysis -- Integration of patterns -- Integration of context -- Pattern analysis in practice -- Bias, Noise, and Error. |
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Pattern analysis is a powerful method that changed dermatopathology, nowadays an indispensable tool in the diagnostic workup of inflammatory and neoplastic lesions. The diagnosis of melanocytic lesions can also be mastered by pattern analysis, which is the link |
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between pathology, dermatoscopy, and clinical dermatology and supports the integration of all views. The histopathologic diagnosis of melanocytic lesions can be challenging for novices and experts alike. While classifications of melanocytic lesions come and go, pattern analysis is timeless; it can be assigned to any classification, current or future, and provides a framework that allows to address complex and uncertain cases in a repeatable manner. While uncertainty cannot be totally eliminated, pattern analysis helps to express this uncertainty in a meaningful way. Written by expert dermatopathologists with experience in dermatoscopy, this book is dedicated to young colleagues and to those who have not yet settled on one of the competing schools of thought; it is intended as a practical guide to help making correct observations, to describe them with a well-defined terminology, and to yield critical decisions in the face of incomplete or conflicting information. The illustrations contained in the volume are all original pictures in high-quality and full-color: reproductions of histopatological cuts in low and high magnification will assist pathologists, dermatologists, and dermatopathologists in interpreting histological slides of melanocytic skin lesions. |
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