LEADER 10948nam 2200469 450 001 9910523741903321 005 20220918165256.0 010 $a3-030-89601-3 035 $a(MiAaPQ)EBC6875916 035 $a(Au-PeEL)EBL6875916 035 $a(CKB)21022994700041 035 $a(EXLCZ)9921022994700041 100 $a20220918d2022 uy 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aPrinciples of genetics and molecular epidemiology /$fedited by Juan Carlos Gomez-Verjan, Nadia Alejandra Rivero-Segura 210 1$aCham, Switzerland :$cSpringer,$d[2022] 210 4$d©2022 215 $a1 online resource (214 pages) 311 08$aPrint version: Gomez-Verjan, Juan Carlos Principles of Genetics and Molecular Epidemiology Cham : Springer International Publishing AG,c2022 9783030896003 320 $aIncludes bibliographical references and index. 327 $aIntro -- Foreword -- References -- Preface -- Acknowledgements -- Contents -- Contributors -- 1: Principles of Modern Epidemiology and Public Health -- Introduction -- Life-Course Epidemiology -- Principles of Life-Course Research -- Development over Time -- Time and Place -- Timing -- Linked Lives -- Free Will or Agency -- Challenges for Life-Course Epidemiology -- Translational Epidemiology -- Postmodern Epidemiology -- Need for a Refocus on Postmodern Epidemiology -- Analysis Levels to be Considered in Postmodern Epidemiology -- Postmodern Epidemiology Perspective -- Final Considerations -- References -- 2: Molecular Tools for Modern Epidemiology: From the Concepts to Clinical Applications -- Introduction -- PCR -- Types of PCR -- Multiplex PCR -- Real-Time PCR -- Reverse Transcription PCR -- Digital PCR -- Lamp -- Principles of Karyotyping -- FISH -- Microarray -- Immunoassays -- Enzyme-Linked Immunosorbent Assay (ELISA) -- Direct ELISA (Antigen-Coated Plate, Screening Antibody) -- Indirect ELISA (Antigen-Coated Plate -- Screening Antigen/Antibody) -- Sandwich ELISA (Antibody-Coated Plate -- Screening Antigen) -- Competitive ELISA (Screening Antibody) -- New Methods -- Clinical Significance -- Western Blot -- Multiplex Western Blot (MWB) -- Capillary Electrophoresis (CE) and Capillary Western Blotting (CWB) -- Microfluidic Western Blotting -- Single-Cell Western Blotting -- Dot Blot -- Far-Western Blotting -- Clinical Significance -- Flow Cytometry -- Clinical Applications -- Phenotypic Characterization of Blood Cells -- Intracellular Antigen Expression -- Characterization of Antigen-Specific Responses -- Cell Cycle Analysis -- Apoptosis -- Proteomics -- Studying the Proteome -- Concluding Remarks -- References -- 3: Genomic Tools in Clinical Epidemiology -- Introduction. 327 $aNGS in the Study of Relevant SNVs and SNPs for Epidemiological Surveillance -- Implication of NGS Technologies on the Control of SARS-CoV-2 Pandemic -- The Influence of Genomic Tools on the Management of Helicobacter pylori Infection -- General Applications of NGS Technologies in Oncology Practices -- Advances on the Pathogenesis and Treatment Knowledge of Rheumatoid Arthritis by Using NGS -- Concluding Remarks -- References -- 4: Epigenetics in Epidemiology -- Introduction -- Epigenetic Process -- Epigenetic Technology Analysis -- Overview of Bioinformatic Analysis of Epigenome -- Epigenetic Biomarkers -- Epigenetics in Pharmacology -- Conclusions -- References -- 5: Principles of Clinical Transcriptomics and Splicing -- Introduction -- The Leap From Classic Gene Expression Studies to Transcriptomics -- General Overview of Transcriptomic Technologies -- SAGE-Derived Sequencing Technologies -- Microarrays -- RNA-seq -- Bulk Transcriptomics Profiling and Single-Cell Transcriptomics -- Splicing and Alternative Splicing -- Implications of Alternative Splicing in Clinics -- Applications of Transcriptomics in Clinical Disease -- Concluding Remarks -- References -- 6: Proteomics Principles and Clinical Applications -- Introduction -- Proteome -- Proteomics -- Proteomics Databases and Tools -- Proteomics Technologies -- Proteomics in Health and Disease -- Proteomics for the Diagnosis of Neurodegenerative Diseases -- Alzheimer's Disease (AD) and Related Dementias Diagnosis -- Proteomic Studies in Parkinson's Disease -- Huntington's Disease -- Cancer -- Mitochondria and Proteomics -- Proteomics of Infectious Diseases -- Viral Infections -- Bacterial Infections -- Parasitic Infections -- Aging, Frailty, and Skeletal Muscle Wasting -- Conclusions -- References -- 7: Metabolomics: From Scientific Research to the Clinical Diagnosis -- Introduction. 327 $aThe "Omics Science" in Human Health -- Toward Personalized Medicine -- Predictive Technologies in Human Diseases -- How to Implement Clinical Analysis Through Metabolomics -- Instrumentation in the Metabolomic Clinic -- Mass Spectral Library and Bioinformatics -- Conclusions -- References -- 8: Microscopy Principles in the Diagnosis of Epidemic Diseases -- Introduction -- Brief History of the Development of the Microscope -- Photonic Microscope -- The Use of Microscopy in the Life Sciences -- Generalities -- Components of the Photon Microscope -- Types of Photon Microscopes -- Bright-Field Microscope -- Dark-Field Microscope -- Phase Contrast Microscope -- Staining of Biological Samples, for Use in Different Types of Photon Microscopy -- The Use of the Photon Microscope in Clinical Diagnosis -- Microscopy as a Diagnostic Method -- The Use of the Photon Microscope in Histopathology for the Diagnosis of Diseases -- Diagnosis of Viral Infections -- Diagnosis of Bacterial Infections -- Diagnosis of Parasitic Infections -- Use of the Microscope in Examination of Urine Sediment -- Fluorescence Microscopy -- Fluorophores -- Excitation Spectrum -- The Fluorescence Microscope -- Confocal Microscopy -- Architecture of the Confocal Microscope -- Confocal Microscopy in Molecular Epidemiology: Clinical Applications and Further Directions -- Confocal Microscopy in Ophthalmology -- Confocal Microscopy in Dermatology -- Rare Diseases and Confocal Microscopy -- Electron Microscopy -- Wave Particle Duality -- Components of the TEM -- Sample Preparation -- The Role of the Electron Microscopy in Virus Diagnostic -- The Role of the TEM in Viral Gastrointestinal Diseases -- The Norovovirus -- The Rotavirus -- The Role of TEM in Viral Respiratory Diseases -- The Influenza Virus -- The Role of Electron Microscopy and the Last Pandemic -- Concluding Remarks -- References. 327 $a9: Physiomics and Phenomics -- Physiomics -- Practical Applications of Physiomics -- Drug Research -- Organ Models -- "The Human Physiome Project" -- Phenomics -- Practical Applications of Phenomics -- Closing Remarks -- References -- 10: Digital Health and Physiomics -- Introduction -- Digital Health -- Wearables and Biosensors -- Social Media and Health -- Social Media in Healthcare -- Monitoring and Retrieval of Official Information -- Disease Detection -- Timely Estimates and Forecasts of Disease Incidence -- Situational Awareness During Emergency Response -- Communication Surveillance -- Global Awareness -- Reaction to Public Health Campaigns and Messages -- Applications -- Digital Health and Physiome -- Conclusion -- References -- 11: Principles of Imaging for Epidemiologists -- Introduction to Imaging Methods in Epidemiology -- Imaging Applications in Neurological and Psychiatric Research -- Illustrative Example: Population Imaging in Alzheimer's Disease -- Imaging Applications in Cardiovascular Research -- Imaging Applications in Cardio-Metabolic Research -- Imaging Applications in Cancer Research -- Use of Imaging in Population-Based Epidemiological Studies -- Study of Health in Pomerania (SHIP) -- Cooperative Health Research in the Region Augsburg (KORA) -- Generation R -- Imaging Biobanks for Epidemiological Research -- Analysis of Imaging Data from Population-Based Studies -- Big Data Challenges -- Multivariate Analysis in Imaging -- Artificial Intelligence: Machine Learning and Deep Learning -- Bayesian Statistics in Imaging -- Limitations and Biases in Imaging Studies -- Anatomical and Incidental Findings -- Nonrepresentative Samples -- Establishing Causal Relationships -- Costs in Population Imaging -- Concluding Remarks -- References -- 12: Bioinformatics and Genomics for Epidemiologists. 327 $aIntroduction: Bioinformatics Applied to Modern Epidemiology -- Applications of Bioinformatics in Modern Epidemiology -- The Need for Clinical Bioinformaticians in the Era of Big Data in Epidemiology -- Technical and Conceptual Limitations in Bioinformatics -- Genome-Wide Association Studies -- A Primer on GWAS and its Applications to Epidemiology -- How Is the GWAS Approach Applied to Epidemiology? -- Incorporating GWAS Findings into Epidemiology -- Analyzing GWAS Data -- Epigenome-Wide Association Studies -- Methods for Conducting EWAS -- Application of EWAS in Epidemiological Studies -- Polygenic Risk Scores -- Polygenic Risk Scores in Personalized Medicine -- First Approaches within the Estimation of GRS -- Determination of Genetic Risk Scores -- Limitations of Polygenic Risk Scores when Applied to a Real-World Scenario -- Perspectives for Bioinformatics and Genomics Using Systems Biology -- Conclusions -- References -- 13: Spatial Statistics and Health Sciences: Methods and Applications -- Introduction -- Descriptive Statistics -- Global and Local Spatial Autocorrelation -- Neighbours -- Spatial Weights -- Interpolation and Geostatistics -- Variogram -- Spatial Interpolation -- Inverse Distance Weight -- Kriging -- Linear Models for Spatial Data -- Spatial Lag Model -- Spatial Autoregressive and Spatial Error Models -- Inference with the Models -- Other Spatial Models -- Simultaneous Moving Average -- Geographically Weighted Regression -- Conclusion -- References -- 14: Principles of Network Models and Systems Epidemiology -- Introduction -- Systems Epidemiology -- Network Models -- Probabilistic Graphical Models (PGM) -- Neural Networks -- Social Network Analysis (SNA) -- Perspectives -- Conclusions -- References -- 15: Molecular Pharmacological Tools Applied to Epidemiology -- Introduction -- Drug Discovery -- Target Identification. 327 $aValidation of the Target. 606 $aMolecular epidemiology 615 0$aMolecular epidemiology. 676 $a614.4 702 $aGomez-Verjan$b Juan Carlos 702 $aRivero-Segura$b Nadia Alejandra 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910523741903321 996 $aPrinciples of Genetics and Molecular Epidemiology$92591887 997 $aUNINA