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  • 1
    UID:
    almahu_9948025856602882
    Format: 1 online resource (353 p.)
    Edition: 1st ed.
    ISBN: 1-282-87895-6 , 9786612878954 , 0-12-375143-8
    Content: According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the pr
    Note: Description based upon print version of record. , Front Cover; Analysis of Complex Disease Association Studies; Copyright; Table of Contents; List of Contributors; Chapter 1 Genetic Architecture ofComplex Diseases; Introduction; Genetic Modeling: Twin, Adoption andFamily Studies; Disease Gene Mapping: Linkage Studies; Disease Gene Mapping: Association Studies; Conclusion; References; Chapter 2 Population Genetics and Linkage Disequilibrium; The Origin and Structure of Variation inThe Human Genome; Pair-Wise Measurement of LD; Predicted and Observed Patterns ofRecombination; The International HapMap Project; Conclusion; References , Chapter 3 Genetic Association Study DesignConcepts and Scope of Association Studies; Population-Based Study Designs; Conclusions; References; Chapter 4 Tag SNP Selection; Introduction; Approaches; Tools; Genotyping Platforms; References; Chapter 5 Genotype Calling; Bias and Error in Genotype Calling; Genotyping Platforms; Normalization Algorithms; Genotype Calling From a Single Array; Genotype Calling of Multiple Arrays Simultaneously; Other Genotype Calling Algorithms; References; Chapter 6 Data Handling; References; Chapter 7 Data Quality Control; Introduction; Sample-based QC , Marker-based QCFamily-based Studies; Post-analysis QC; Summary; References; Chapter 8 Single-locus Tests of Association for Population-based Studies; Introduction; Genetic Models; Covariates; Genome - wide Associations Studies and General Interpretation; Quantitative Traits; Conclusion; References; Chapter 9 Effects of Population Structure in Genome-wide Association Studies; Introduction; Genetic Structure of Populations; Effects of Population Structure on Standard Tests for Association; Analysis of Structured Populations; LINKS; References; Chapter 10 Genotype Imputation; Uses of Imputation , Genotype Imputation MethodsSNP Tagging-Based Approaches; Hidden Markov Model-Based Approaches; Perspectives and Future Directions; References; Chapter 11 Haplotype Methods for Population-based Association Studies; Haplotype Reconstruction in Population-Based Association Studies; Population-Based Haplotype Association Analysis; Summary; References; Chapter 12 Gene-Gene Interaction and Epistasis; Introduction; What is ``Epistasis''?; ``Biological'' Epistasis; Statistical Epistasis; Two-Locus Quantitative Trait Models Incorporating Epistatic Interactions , Test for Association Incorporating InteractionsTwo-Locus Binary Models Incorporating Interaction; Why Model Epistasis?; Strategies for Detecting Epistasis in Genome-WideAssociation Studies; Two-Stage Strategies to Detect Epistasis; Other Simple Tests for Gene-Gene Interaction; Higher-Order Interactions; More Sophisticated Approaches to Modeling and Detecting Interactions; Conclusions; Reference; Chapter 13 Copy Number Variant Association Studies; Introduction; The Value of CNV Association Studies; Differences Between SNP and CNV Association Studies; Normalization of CNV Intensity Data , Normalization of SNP Genotyping Data forCNV Studies , English
    Additional Edition: ISBN 0-12-375142-X
    Language: English
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  • 2
    Online Resource
    Online Resource
    London : Academic
    UID:
    gbv_1651554765
    Format: Online Ressource (viii, 331 p., [12] p. of plates) , illustrations (some color)
    Edition: Online-Ausg.
    ISBN: 9781282878952 , 1282878956
    Content: Genetic architecture of complex disease -- Population genetics and linkage disequilibrium -- Genetic association study design -- Selection of SNPs -- Genotype calling -- Data handling -- Data quality control -- Single-locus tests of association for population-based studies -- Population structure -- Haplotype-based methods -- Interaction analyses -- Copy number variant analysis -- Analysis of family-based association studies -- Bioinformatics approaches -- Interpreting association signals -- Delineating association signals -- Case study: obesity -- Case study: rheumatoid arthritis
    Content: According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. (good paragraph) This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. This book will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research
    Note: Includes bibliographical references and index. - Description based on print version record
    Additional Edition: ISBN 9781282878952
    Additional Edition: ISBN 1282878956
    Additional Edition: ISBN 9780123751423
    Additional Edition: ISBN 012375142X
    Additional Edition: ISBN 9780123751423
    Additional Edition: Erscheint auch als Druck-Ausgabe Analysis of complex disease association studies London : Academic, 2010 ISBN 9780123751423
    Language: English
    Keywords: Electronic books ; Electronic books
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  • 3
    UID:
    edoccha_990043125350402883
    ISBN: 9780123751423 , 012375142X
    Language: English
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  • 4
    Online Resource
    Online Resource
    New York : Springer Nature | New York, NY :Springer New York :
    UID:
    edoccha_9959072706002883
    Format: 1 online resource (262 p.)
    Edition: 1st ed. 2015.
    ISBN: 1-4939-2824-4
    Content: This unique volume is the first to cover a wide range of design and analysis issues in genetic studies of rare variants, with contributions from experts in the field, through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENES. The book presents state-of-the-art methodology for rare variant detection and calling, imputation, and analysis in samples of unrelated individuals and families. It also covers analytical issues associated with the study of rare variants, such as the impact of fine-scale population structure, and rare variants studies in a meta-analysis framework. This book covers multiple aspects of study design, analysis and interpretation for complex trait studies focusing on rare sequence variation. In many areas of genomic research, including complex trait association studies, technology is in danger of outstripping our capacity to analyze and interpret the vast amounts of data generated. The field of statistical genetics in the whole-genome sequencing era is still in its infancy, but as this book illustrates, powerful methods to analyze the aggregation of low-frequency and rare variants are now starting to emerge. The chapter Functional Annotation of Rare Genetic Variants is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
    Note: Description based upon print version of record. , Calling Rare Variants from Genotype Data -- Calling Variants from Sequence Data -- Rare Variant Quality Control -- Rare Structural Variants -- Functional Annotation of Rare Genetic Variants -- The 1000 Genomes Project -- The UK10K Project -- Population Isolates -- Natural Selection at Rare Variants -- Collapsing Approaches for the Association Analysis of Rare Variants -- Rare Variant Association Analysis: Beyond Collapsing Approaches -- Significance Thresholds for Rare Variant Signals -- Power of Rare Variant Aggregate Tests -- Replicating Sequence-based Association Studies of Rare Variants -- Meta-analysis of Rare Variants -- Population Stratification of Rare Variants -- Use of Appropriate Controls in Rare Variant Studies -- Trans-ethnic Fine-mapping of Rare Causal Variants. , English
    Additional Edition: ISBN 1-4939-2823-6
    Language: English
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  • 5
    Online Resource
    Online Resource
    New York : Springer Nature | New York, NY :Springer New York :
    UID:
    edocfu_9959072706002883
    Format: 1 online resource (262 p.)
    Edition: 1st ed. 2015.
    ISBN: 1-4939-2824-4
    Content: This unique volume is the first to cover a wide range of design and analysis issues in genetic studies of rare variants, with contributions from experts in the field, through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENES. The book presents state-of-the-art methodology for rare variant detection and calling, imputation, and analysis in samples of unrelated individuals and families. It also covers analytical issues associated with the study of rare variants, such as the impact of fine-scale population structure, and rare variants studies in a meta-analysis framework. This book covers multiple aspects of study design, analysis and interpretation for complex trait studies focusing on rare sequence variation. In many areas of genomic research, including complex trait association studies, technology is in danger of outstripping our capacity to analyze and interpret the vast amounts of data generated. The field of statistical genetics in the whole-genome sequencing era is still in its infancy, but as this book illustrates, powerful methods to analyze the aggregation of low-frequency and rare variants are now starting to emerge. The chapter Functional Annotation of Rare Genetic Variants is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
    Note: Description based upon print version of record. , Calling Rare Variants from Genotype Data -- Calling Variants from Sequence Data -- Rare Variant Quality Control -- Rare Structural Variants -- Functional Annotation of Rare Genetic Variants -- The 1000 Genomes Project -- The UK10K Project -- Population Isolates -- Natural Selection at Rare Variants -- Collapsing Approaches for the Association Analysis of Rare Variants -- Rare Variant Association Analysis: Beyond Collapsing Approaches -- Significance Thresholds for Rare Variant Signals -- Power of Rare Variant Aggregate Tests -- Replicating Sequence-based Association Studies of Rare Variants -- Meta-analysis of Rare Variants -- Population Stratification of Rare Variants -- Use of Appropriate Controls in Rare Variant Studies -- Trans-ethnic Fine-mapping of Rare Causal Variants. , English
    Additional Edition: ISBN 1-4939-2823-6
    Language: English
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  • 6
    UID:
    gbv_1778616763
    Format: 1 Online-Ressource (263 p.)
    ISBN: 9781493928248 , 9781493928231 , 9781493945184 , 9781493928248
    Content: This book is unique in covering a wide range of design and analysis issues in genetic studies of rare variants, taking advantage of collaboration of the editors with many experts in the field through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENES. Chapters provide details of state-of-the-art methodology for rare variant detection and calling, imputation and analysis in samples of unrelated individuals and families. The book also covers analytical issues associated with the study of rare variants, such as the impact of fine-scale population structure, and with combining information on rare variants across studies in a meta-analysis framework. Genetic association studies have in the last few years substantially enhanced our understanding of factors underlying traits of high medical importance, such as body mass index, lipid levels, blood pressure and many others. There is growing empirical evidence that low-frequency and rare variants play an important role in complex human phenotypes. This book covers multiple aspects of study design, analysis and interpretation for complex trait studies focusing on rare sequence variation. In many areas of genomic research, including complex trait association studies, technology is in danger of outstripping our capacity to analyse and interpret the vast amounts of data generated. The field of statistical genetics in the whole-genome sequencing era is still in its infancy, but powerful methods to analyse the aggregation of low-frequency and rare variants are now starting to emerge
    Note: English
    Language: English
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  • 7
    UID:
    almafu_990043125350402883
    ISBN: 9780123751423 , 012375142X
    Language: English
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  • 8
    Online Resource
    Online Resource
    London :Henry Stewart Talks Ltd,
    UID:
    almafu_9961427387602883
    Format: 1 videorecording (27 min., 07 sec.) , 002707
    Content: Audio-visual presentation: Genetic architecture of common complex diseases -- Genome-wide association scans -- Genome-wide association scan methodology -- Application to type 2 diabetes genome-wide association scan data.
    Note: Retrieved April 9, 2024, from https://hstalks.com/bs/874/. , Introduction -- Overview -- Atlas of complex disease susceptibility -- Progress in genetic association studies -- WTCCC GWA study desgin -- WTCCC -T2D -- Confirmed T2D susceptibility variants -- WTCCC-T2D: additional susceptibility variants -- Prioritisation on the basis of gene candidacy -- Gene-centric approach unlikely to bear fruit -- WTCCC -T2D: PPARG and KCNJ11 loci -- DGI and FUSION T2D GWA scans -- Replication and power -PPARG rs1801282 -- Meta-analysis of GWA scans -- Meta-analysis -principles -- Required information for the meta-analysis -- Steps of meta-analysis of GWA scans -- Assessment of heterogeneity -- Meta-analysis methods -- GWAS imputation and combination -- GWAS combination -challenges -- Encouraging results -- Results of the meta-analysis (1) -- Results of the meta-analysis (2) -- Concluding remark -- References.
    Language: English
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  • 9
  • 10
    UID:
    gbv_1774664429
    Format: 7
    ISSN: 1879-1026
    In: The science of the total environment, Amsterdam [u.a.] : Elsevier Science, 1972, 797(2021), Artikel-ID 149031, 1879-1026
    In: volume:797
    In: year:2021
    In: elocationid:149031
    In: extent:7
    Language: English
    Author information: Fingerle, Volker
    Author information: Schwettmann, Lars 1973-
    Author information: Hölscher, Michael
    Author information: Osterman, Andreas 1984-
    Author information: Fröschl, Günter 1972-
    Author information: Münchhoff, Maximilian 1981-
    Author information: Keppler, Oliver Till 1968-
    Author information: Dobler, Gerhard
    Author information: Wieser, Andreas 1983-
    Author information: Radon, Katja
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