Statistical methods in genetic epidemiology:
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Oxford
Oxford University Press
2004
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XXI, 435 S. |
| ISBN: | 019515939X |
Internformat
MARC
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| 245 | 1 | 0 | |a Statistical methods in genetic epidemiology |c Duncan C. Thomas |
| 264 | 1 | |a Oxford |b Oxford University Press |c 2004 | |
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| 650 | 7 | |a Epidemiologie |2 gtt | |
| 650 | 7 | |a Genetica |2 gtt | |
| 650 | 7 | |a Statistische methoden |2 gtt | |
| 650 | 4 | |a Statistik | |
| 650 | 4 | |a Epidemiology | |
| 650 | 4 | |a Genetic epidemiology |x Statistical methods | |
| 650 | 4 | |a Genetics | |
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Datensatz im Suchindex
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|---|---|
| adam_text | Contents
SUMMARY OF COMMONLY USED NOTATION, xix
1. OVERVIEW OF GENETIC EPIDEMIOLOGY, 3
The Process of Genetic Epidemiology, 4
Descriptive Epidemiology and Hypothesis Generation, 6
Familial Aggregation, 11
Segregation Analysis, 14
Linkage Analysis, 15
Fine Mapping and Cloning, 18
Candidate Gene Association Studies, 19
Characterizing the Effects of Cloned Genes, 20
Conclusions, 22
2. BASIC CONCEPTS OF MOLECULAR GENETICS
(by Sue Ingles), 25
Chromosomes, 25
Cell Division, 27
Cell Cycle, 27
Mitosis, 28
Meiosis, 30
Genetic Recombination, 31
Meiotic Recombination, 31
Mitotic Recombination, 32
DNA, 33
Gene Expression, 35
Transcription, 37
RNA Processing, 38
Translation, 39
Post Translational Modification, 41
DNA Polymorphism, 42
Conclusions, 43
xiii
xiv Contents
3. PRINCIPLES OF MENDELIAN INHERITANCE, 45
Basic Concepts, 45
Mendelian Inheritance at a Single Locus, 50
Classical Autosomal Dominant Inheritance, 53
Classical Autosomal Recessive Inheritance, 54
Classical X Iinked Inheritance, 55
Multiallelic Loci, 57
Mendelian Inheritance at Two Loci, 58
Conclusions, 59
4. BASIC EPIDEMIOLOGIC AND STATISTICAL PRINCIPLES, 61
Basic Probability Theory, 61
Basic Epidemiologic Principles, 64
Study Designs, 65
Measures of Disease Frequency and Association, 67
Interpretation of Epidemiologic Associations, 76
Maximum Likelihood, 77
Generalized Estimating Equations, 86
Markov Chain Monte Carlo Methods, 87
Randomization Procedures, 92
Conclusions, 93
5. FAMILIAL AGGREGATION, 95
Genetic Relationships and Gene Identity, 95
Formal Derivation of p and A, 97
Familial Correlations of Continuous Phenotypes, 99
Familial Risk of Disease, 104
The Concept of Familial Risk, 104
Design Principles, 111
Analytical Approaches, 113
Other Designs, 120
Randomization Tests of Familial Clustering, 120
Twin Studies, 122
Adoption Studies, 126
Approaches to Dependent Data, 129
Genetic Models, 130
Regressive Models, 130
Frailty Models, 131
Generalized Estimating Equations, 134
Conclusions, 135
6. SEGREGATION ANALYSIS, 137
Design Issues, 137
Ascertainment of Families, 137
Sequential Sampling, 139
contents xv
Classical Methods for Sibships, 141
Ascertainment Correction, 143
Likelihood Methods for Pedigree Analysis, 146
General Model, 146
Polygenic and Mixed Models, 148
Penetrance Models, 150
The Elston Stewart Peeling Algorithm, 153
Hypothesis Testing, 157
Alternative Methods, 160
Gibbs Sampling, 160
Generalized Estimating Equations, 162
Applications to Breast Cancer, 162
Conclusions, 164
7. LINKAGE ANALYSIS, 167
Recombination and Map Functions, 168
Direct Counting Methods, 172
Relative Pair Methods, 176
Identity by State and by Descent, 177
Affected Sib Pair Methods, 182
Affected Relative Pair Methods, 187
Sib Pair Methods for Quantitative Traits, 188
Generalized Estimating Equation Methods, 190
Lod Score Methods, 191
Two Point Linkage, 191
Joint Segregation and Linkage Analysis and the
Mod Score, 196
Multipoint Linkage and Ordering Loci, 200
Genome Wide Scans, 207
Genetic Heterogeneity, 211
Gibbs Sampling Methods, 214
Design Issues, 216
Power and Sample Size, 216
Selection Bias and Misspecification, 220
Fine Mapping and Cloning of BRCA1, 221
Conclusions, 226
8. PRINCIPLES OF POPULATION GENETICS, 227
Distribution of Genes at a Single Locus, 228
Hardy Weinberg Equilibrium in Large Populations, 228
Genetic Drift in Finite Populations, 230
Effects of Mutation and Selection, 232
Distribution of Genes at Two Loci, 235
Origins of Linkage Disequilibrium, 238
Decay of Linkage Disequilibrium, 240
Estimation of Linkage Disequilibrium, 242
xvi Contents
Evolution of Haplotypes, 246
Ancestral Inference, 247
Coalescent Trees, 247
Ancestral Recombination Graphs, 250
Conclusions, 251
9. TESTING CANDIDATE GENE ASSOCIATIONS, 253
Distributions of Genes in Affected and Unaffected
Individuals, 254
Homogeneous Populations, 254
Ethnically Stratified Populations, 259
Families, 261
Design Options for Association Studies, 264
Cohort Study Designs, 264
Case Control Designs, 265
Parental Controls and the Transmission/Disequilibrium Test, 274
Family Based Association Tests, 279
Quantitative Traits, 280
Conclusions, 281
10. LINKAGE DISEQUILIBRIUM MAPPING, 283
Recently Admixed Populations, 283
Isolated Populations, 286
Empiric Methods for Estimating the Location of a Disease
Gene or Mutation, 288
Haplotype Sharing Methods, 290
Parametric Methods Based on the Coalescent, 291
How Much Linkage Disequilibrium Is There in the Human
Genome? 294
Haplotype Block Structure, 295
Conclusions, 302
11. GENE CHARACTERIZATION, 303
Estimation of Genetic Risks, 303
Cohort and Case Control Designs Using Unrelated Subjects, 304
Familial Cohort Study Designs, 305
Multistage Sampling and Countermatching, 315
Relative Efficiency of the Alternative Designs, 318
Gene Environment and Gene Gene Interactions, 320
Case Control Designs, 321
Case Only Studies, 323
Case Parent Trios, 324
Gene Environment Interactions for Breast Cancer, 326
Relative Efficiency of Alternative Designs for Interaction Effects, 329
Estimation of Gene Frequencies and Carrier Probabilities, 331
Searching for Additional Genes, 335
Conclusions, 338
12. TYING IT ALL TOGETHER: THE GENETIC EPIDEMIOLOGY
OF COLORECTAL CANCER, 339
History, Descriptive Epidemiology, and Familiality, 339
Mechanistic Hypotheses, 343
Models of Carcinogenesis, 343
Cancer Genes, 344
Genomic Instability, 345
Familial Cancer Syndromes, 346
Familial Adenomatous Polyposis, 346
Hereditary Nonpolyposis Colorectal Cancer, 348
Sporadic Cancers, 352
Genetic Alterations in Colorectal Cancer, 352
Pathways: Suppressor and Mutator, 353
Metabolic Pathways, 354
The Relationship Between Polyps and Colorectal Cancer, 356
Discovery of Novel Colorectal Cancer Genes, 356
Implications for Clinical Management, 358
The Future, 358
Genome Wide Scans for Association and Interactions, 358
Gene Expression Assays, 360
DNA Methylation and Loss of Imprinting, 363
Conclusions, 366
GLOSSARY, 367
REFERENCES, 387
INDEX, 429
|
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| spelling | Thomas, Duncan C. Verfasser aut Statistical methods in genetic epidemiology Duncan C. Thomas Oxford Oxford University Press 2004 XXI, 435 S. txt rdacontent n rdamedia nc rdacarrier Epidemiologie gtt Genetica gtt Statistische methoden gtt Statistik Epidemiology Genetic epidemiology Statistical methods Genetics Statistics as Topic methods Epidemiologie (DE-588)4015016-1 gnd rswk-swf Methode (DE-588)4038971-6 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf (DE-588)4056995-0 Statistik gnd-content Erbkrankheit (DE-588)4015106-2 s Epidemiologie (DE-588)4015016-1 s Methode (DE-588)4038971-6 s b DE-604 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010341311&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Thomas, Duncan C. Statistical methods in genetic epidemiology Epidemiologie gtt Genetica gtt Statistische methoden gtt Statistik Epidemiology Genetic epidemiology Statistical methods Genetics Statistics as Topic methods Epidemiologie (DE-588)4015016-1 gnd Methode (DE-588)4038971-6 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| subject_GND | (DE-588)4015016-1 (DE-588)4038971-6 (DE-588)4015106-2 (DE-588)4056995-0 |
| title | Statistical methods in genetic epidemiology |
| title_auth | Statistical methods in genetic epidemiology |
| title_exact_search | Statistical methods in genetic epidemiology |
| title_full | Statistical methods in genetic epidemiology Duncan C. Thomas |
| title_fullStr | Statistical methods in genetic epidemiology Duncan C. Thomas |
| title_full_unstemmed | Statistical methods in genetic epidemiology Duncan C. Thomas |
| title_short | Statistical methods in genetic epidemiology |
| title_sort | statistical methods in genetic epidemiology |
| topic | Epidemiologie gtt Genetica gtt Statistische methoden gtt Statistik Epidemiology Genetic epidemiology Statistical methods Genetics Statistics as Topic methods Epidemiologie (DE-588)4015016-1 gnd Methode (DE-588)4038971-6 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| topic_facet | Epidemiologie Genetica Statistische methoden Statistik Epidemiology Genetic epidemiology Statistical methods Genetics Statistics as Topic methods Methode Erbkrankheit |
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