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Umfang: 1 online resource (798 pages)

ISBN: 9780128005309 , 0128005300

Anmerkung: Front Cover -- Genomics, Circuits, and Pathways in Clinical Neuropsychiatry -- Genomics, Circuits, and Pathways in Clinical Neuropsychiatry -- Copyright -- Contents -- List of Contributors -- Preface -- I - The Genome Tools and Methods -- 1 - The Newly Emerging View of the Genome -- INTRODUCTION -- CONCEPTUALIZING DNA -- INFORMATION FLOW IN BIOLOGICAL SYSTEMS -- KEY DEFINITIONS -- Cis and Trans -- Gene -- Transcript -- High-Throughput Sequencing -- THE GENOME (DNA) -- VISUALIZING THE GENOME -- LARGE-SCALE STRUCTURES IN THE GENOME -- Telomeres -- Subtelomeres -- Centromeres -- SMALL-SCALE STRUCTURES IN THE GENOME -- Protein-Coding Genes -- Promoters -- Untranslated Regions -- Exons -- Introns -- Splice Sites -- Protein-Coding Sequence -- Noncoding Transcripts/Genes -- Pseudogenes -- Long Noncoding RNAs -- Small Noncoding RNAs -- Circular RNAs -- Enhancers -- Silencers -- Insulators -- Repetitive Elements -- DNA Transposons -- Short Interspersed Nuclear Elements -- Long Interspersed Nuclear Elements -- Long Terminal Repeat Retrotransposons -- MULTIPLE ROLES -- VARIATION IN THE GENOME -- Entire Chromosomes -- Structural Variation -- Insertions and Deletions -- Single-Nucleotide Variants -- Loss-of-Function Variants -- ETHNICITY AND POPULATION FREQUENCY OF VARIANTS IN THE GENOME -- VARIATION IN COMPLEX AND MENDELIAN DISORDERS -- CHROMATIN (DNA, RNA, AND PROTEIN) AND EPIGENETICS -- Chromatin State -- Heterochromatin -- Euchromatin -- DNA Methylation -- Histone Proteins -- Chromatin Remodelers -- Transcription Factors -- Cofactors -- Elongation Factors -- Cohesins -- REGULATORY COMPLEXES -- Preinitiation Complex (PIC) -- General Transcription Factors -- RNA Polymerase II -- Mediator (Coactivator) -- Proximal Promoter-Pausing Complexes -- Elongation Complex -- TRANSCRIPTION (RNA) -- POSTTRANSCRIPTIONAL MRNA MODIFICATIONS -- Epitranscriptome. , RNA Editing -- RNA Processing -- TRANSLATION -- POSTTRANSLATIONAL MODIFICATIONS -- SUMMARY -- REFERENCES -- 2 - Contribution of Genetic Epidemiology to Our Understanding of Psychiatric Disorders -- INTRODUCTION -- BACKGROUND: EPIDEMIOLOGY -- Contributions to Psychiatry -- Genetic Epidemiology -- Family Studies -- Twin Studies -- Adoption Studies -- GENETIC EPIDEMIOLOGY OF PSYCHIATRIC DISORDERS -- Neurodevelopmental Disorders -- Attention-Deficit Hyperactivity Disorder -- Autism Spectrum Disorder -- Schizophrenia -- Eating Disorders -- Mood Disorders -- Anxiety Disorders: Panic Disorder -- Obsessive-Compulsive Disorder -- Substance Use Disorders -- Summary -- APPLICATIONS OF GENETIC EPIDEMIOLOGY IN MOLECULAR ERA -- Study Designs and Samples -- Genome-Wide Association Studies: Case-Control Studies -- Whole Genome/Exome Sequencing of Case-Control Studies -- Population Registries and Biobanks -- Statistical Approaches to Estimate Genetic Influence -- Phenotypes: Moving Beyond Dichotomous Classification -- Phenotypic Boundaries -- Use of Endophenotypes for Classification -- Computational Phenotype Analysis -- Incorporation of Environmental Factors -- Combining Genetic and Environmental Factors -- Team Science -- REFERENCES -- 3 - Natural Selection and Neuropsychiatric Disease: Theory, Observation, and Emerging Genetic Findings -- INTRODUCTION -- EPIDEMIOLOGY OF NEUROPSYCHIATRIC DISEASE -- THEORETICAL CONSIDERATIONS -- HYPOTHESIS TESTING: EPIDEMIOLOGY AND EMERGING GENETIC DATA -- MENDELIAN RANDOMIZATION AND POLYGENIC RISK -- DE NOVO MUTATION AND MUTATION-SELECTION BALANCE -- CONCLUSIONS -- REFERENCES -- 4 - Genome Tools and Methods: Rare Genetic Variation -- RARE VARIANTS IN PSYCHIATRIC DISEASE -- GENETIC VARIATION -- MODERN TECHNOLOGIES FOR DISCOVERY OF RARE VARIANTS. , MICROARRAY TECHNOLOGY AND LARGE-SCALE COPY NUMBER VARIANTS IN NEURODEVELOPMENTAL AND NEUROPSYCHIATRIC DISEASE -- COPY NUMBER VARIANT STUDIES OF DISEASE -- STUDIES OF DE NOVO MUTATION IN TRIO FAMILIES -- CASE-CONTROL STUDIES -- ANALYSIS STRATEGIES -- Genome -- Pathways -- Genes -- SNVs -- DETECTION OF RARE GENETIC VARIATION BY HIGH-THROUGHPUT SEQUENCING -- Exome -- Gene Panels -- Whole Genome Sequencing -- RARE GENETIC VARIATION IN NONCODING DNA: A NEW FRONTIER -- RARE GENETIC VARIANTS AND THE POTENTIAL TO AFFECT CLINICAL CARE -- REFERENCES -- 5 - Neuroepigenomics and Human Disease -- EPIGENETICS -- EPIGENETICS IN NEUROBIOLOGICAL RESEARCH -- THE GENOMIC CONTEXT OF TRANSCRIPTIONAL AND EPIGENETIC MECHANISMS -- TRANSCRIPTIONAL AND EPIGENETIC REGULATORY MECHANISMS -- EPIGENETIC PERTURBATION AND EPIGENOME-WIDE ASSAYS -- CELL TYPE CHOICES IN NEUROEPIGENOMIC STUDIES -- INTERACTION OF THE GENOME WITH THE EPIGENOME -- EPIGENETICS MECHANISMS OF BRAIN DISEASES: GENERAL PRINCIPLES AND FUTURE DIRECTIONS -- REFERENCES -- 6 - Bioinformatics in Neuropsychiatric Genomics -- WHAT IS BIOINFORMATICS? -- DATABASES -- METHODS -- TOOLS -- STANDARDS -- SUMMARY -- LIST OF URLS -- Core Genomic Databases and Portals -- Genome Browsers -- Genetic Variation -- Gene Expression Resources -- Programming Environments for Bioinformatics -- Genetic Linkage, Association, and Variation Detection -- Network and Pathway Analysis -- Rare Variant Detection and Annotation -- Identifiers, Ontologies, and Standards -- Psychiatric/Neuroscience Projects -- REFERENCES -- 7 - Imaging Genomics and ENIGMA -- INTRODUCTION -- POWER OF MRI -- WHAT IS IMAGING GENOMICS? -- The Endophenotype Concept and Biomarkers -- MAPPING BRAIN DISEASES IN NEUROLOGY -- MRI VERSUS CELLULAR MEASURES -- MAPPING BRAIN DISORDERS: PSYCHIATRY -- PSYCHIATRIC NEUROIMAGING EXPANDS WORLDWIDE -- Meta-Analysis. , ENIGMA STUDIES OF BRAIN DISEASE -- DEFUSING CONTROVERSY WITH META-ANALYSIS -- IMAGING GENOMICS AND GENOME-WIDE ASSOCIATION STUDIES -- GENETIC INFLUENCES ON THE BRAIN -- GENES AND DISEASE RISK -- MANHATTAN PLOTS -- CANDIDATE GENES AND GENOME-WIDE ASSOCIATION STUDIES -- GENOME-WIDE SIGNIFICANCE -- FORMATION OF ENIGMA IN 2009 -- SURPRISES FROM IMAGING GENOMICS CONSORTIA -- OTHER NEUROIMAGING METHODS -- MULTIVARIATE IMAGING GENOMICS AND BIG DATA -- SEARCHING THE BRAIN FOR GENE EFFECTS -- Cooperative Machine Learning -- CONCLUSIONS -- ACKNOWLEDGMENTS -- REFERENCES -- 8 - Brain in a Dish: Stem Cell Technologies to Study Disorders of the Central Nervous System -- GENERATING INDUCED PLURIPOTENT STEM CELLS -- PROGRESS IN MODELING HUMAN CENTRAL NERVOUS SYSTEM PATHOLOGY: NEURODEVELOPMENTAL DISORDERS -- RETT SYNDROME -- FRAGILE X SYNDROME -- ANGELMAN SYNDROME -- TIMOTHY SYNDROME -- CONTRIBUTION OF DIFFERENT CELL TYPES TO NEURODEVELOPMENTAL DISORDERS -- THE NEXT STEP OF INDUCED PLURIPOTENT STEM CELLS: THREE-DIMENSIONAL CULTURES AND MINI-BRAINS -- LIMITATIONS OF INDUCED PLURIPOTENT STEM CELL MODEL -- GENOME EDITING: CREATING DISEASED EMBRYONIC STEM CELLS -- DRUG DISCOVERY WITH INDUCED PLURIPOTENT STEM CELLS -- CONCLUSIONS -- REFERENCES -- 9 - Association Strategies -- COMMON VARIANTS -- RARE VARIANTS -- CONCLUSIONS -- ACKNOWLEDGMENTS -- REFERENCES -- 10 - Reconstructing Causal Network Models of Human Disease -- INTRODUCTION -- MODELING BIOLOGICAL DATA -- CAUSALITY AS A STATISTICAL INFERENCE -- FROM ASSESSING CAUSAL RELATIONSHIPS AMONG TRAIT PAIRS TO PREDICTIVE GENE NETWORKS -- Building From the Bottom Up or Top Down? -- An Integrative Genomics Approach to Constructive Predictive Network Models -- Integrating Genetic Data as a Structure Before Enhancing Causal Inference in the Bayesian Network Reconstruction Process. , Incorporating Other -Omics Data as Network Priors in the Bayesian Network Reconstruction Process -- Elucidating the Complexity of Human Disease: From the Metabolic to the Psychiatric -- APPLICATION OF PREDICTIVE NETWORK MODELS TO HIGH-THROUGHPUT SCREENING -- CONCLUSION AND FUTURE DIRECTIONS -- REFERENCES -- 11 - Gene Networks in Neuropsychiatric Disease -- INTRODUCTION -- RNA, PROTEIN, AND EPIGENETIC MOLECULAR LEVELS IN NEUROBIOLOGY -- THE CHALLENGE OF SPATIAL AND TEMPORAL HETEROGENEITY IN THE CENTRAL NERVOUS SYSTEM -- GENE NETWORKS PROVIDE A FRAMEWORK FOR NEUROBIOLOGICAL INTERPRETATION -- GENE NETWORKS IN NEUROPSYCHIATRIC DISORDERS -- Genome-Wide Approaches -- Seed-Based Approaches -- Protein-Protein Interaction Networks -- Integrative Network Approaches -- Themes From Cross-Method Comparisons -- CONCLUSIONS AND FUTURE DIRECTIONS -- ACKNOWLEDGMENTS -- REFERENCES -- 12 - Somatic Mosaicism and Neurological Diseases -- INTRODUCTION -- CORTICAL CLONAL ARCHITECTURE AND SOMATIC MUTATIONS -- SOMATIC MUTATIONS IN NORMAL BRAIN -- SOMATIC MUTATION IN NEUROLOGICAL DISEASE -- ``Brain-Only'' Somatic Mutations -- ``Second-Hit'' Mutations Produce Mosaicism -- Neurodevelopmental Disorders Caused by Somatic Mutations -- Neurological Diseases Caused or Modulated by Somatic Mutations -- TYPES OF SOMATIC VARIANTS -- Large-Scale Chromosomal Abnormalities -- Copy Number Variants -- Single-Nucleotide Variants -- TISSUE TYPE CONSIDERATIONS -- TOOLS TO STUDY SOMATIC VARIATION IN THE BRAIN -- Copy Number Variants -- Cytogenetics -- Microarrays -- Single-Cell Copy Number Analyses -- Digital Droplet Polymerase Chain Reaction -- Single-Nucleotide Variants, Including Insertions and Deletions -- Sanger Sequencing -- Subcloning Followed by Sanger Sequencing -- Next-Generation Sequencing -- Single-Cell Sequencing -- Mass Spectrometry -- CONCLUSION -- ACKNOWLEDGMENTS -- REFERENCES. , II - A New Neuroanatomy.

Weitere Ausg.: ISBN 9780128001059

Weitere Ausg.: ISBN 0128001054

Sprache: Englisch