Assessing Rare Variation In Complex Traits

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Assessing Rare Variation in Complex Traits

Author : Eleftheria Zeggini
Publisher : Springer
ISBN 13 : 1493928244
Total Pages : 262 pages
Book Rating : 4.4/5 (939 download)

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Book Synopsis Assessing Rare Variation in Complex Traits by : Eleftheria Zeggini

Download or read book Assessing Rare Variation in Complex Traits written by Eleftheria Zeggini and published by Springer. This book was released on 2015-08-13 with total page 262 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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. 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.

Genetic Epidemiology

Author : Evangelos Evangelou
Publisher : Humana Press
ISBN 13 : 9781493978670
Total Pages : 299 pages
Book Rating : 4.9/5 (786 download)

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Book Synopsis Genetic Epidemiology by : Evangelos Evangelou

Download or read book Genetic Epidemiology written by Evangelos Evangelou and published by Humana Press. This book was released on 2018-06-07 with total page 299 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume details fast-moving research while providing in-depth descriptions of methods and analytical approaches that are helping to understand the genome and how it is related to complex diseases. Chapters guide the reader through common and rare variation, gene-gene and gene-environment interactions and state-of-the-art approaches for the synthesis of genome-wide and gene expression data. Novel approaches for associations in the HLA region, family-based designs, Mendelian Randomization and Copy Number Variation are also presented. The volume concludes with the challenges researchers face while moving from identifying variants to their functional role and potential drug targets. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, a thorough presentation of methods and approaches and tips on troubleshooting and avoiding known pitfalls.

Rare-variant Approaches to Complex Traits Across Population Biobanks

Author : Guhan Ram Venkataraman
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (128 download)

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Book Synopsis Rare-variant Approaches to Complex Traits Across Population Biobanks by : Guhan Ram Venkataraman

Download or read book Rare-variant Approaches to Complex Traits Across Population Biobanks written by Guhan Ram Venkataraman and published by . This book was released on 2021 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Complex diseases are a significant global burden, accounting for 70% of deaths in the U.S. annually. For example, 70,000 new cases of inflammatory bowel disease are diagnosed every year. Many such diseases have underlying genetic etiologies responsible for their pathology. Understanding their genetic basis could lead to more timely diagnosis and improved prognosis. Furthermore, human genetics presents an opportunity to identify new therapeutic targets. However, while much of the disease-causative common variation is well-documented, our understanding of rare, disease-contributory variation is sparse, largely due to the lack of power (limited sample size) and ascertainment to detect such variation with accuracy. While the above goal of understanding rare variation is not achievable with small cohort (n

Understanding Variation in Complex Traits

Author : International Conference on Quantitative Genetics
Publisher :
ISBN 13 :
Total Pages : 285 pages
Book Rating : 4.:/5 (814 download)

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Book Synopsis Understanding Variation in Complex Traits by : International Conference on Quantitative Genetics

Download or read book Understanding Variation in Complex Traits written by International Conference on Quantitative Genetics and published by . This book was released on 2012* with total page 285 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Biosocial Surveys

Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309108675
Total Pages : 429 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Biosocial Surveys by : National Research Council

Download or read book Biosocial Surveys written by National Research Council and published by National Academies Press. This book was released on 2008-01-06 with total page 429 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biosocial Surveys analyzes the latest research on the increasing number of multipurpose household surveys that collect biological data along with the more familiar interviewerâ€"respondent information. This book serves as a follow-up to the 2003 volume, Cells and Surveys: Should Biological Measures Be Included in Social Science Research? and asks these questions: What have the social sciences, especially demography, learned from those efforts and the greater interdisciplinary communication that has resulted from them? Which biological or genetic information has proven most useful to researchers? How can better models be developed to help integrate biological and social science information in ways that can broaden scientific understanding? This volume contains a collection of 17 papers by distinguished experts in demography, biology, economics, epidemiology, and survey methodology. It is an invaluable sourcebook for social and behavioral science researchers who are working with biosocial data.

Exploiting Whole Genome Sequence Variants in Cattle Breeding

Author :
Publisher :
ISBN 13 : 9788793643147
Total Pages : 249 pages
Book Rating : 4.6/5 (431 download)

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Book Synopsis Exploiting Whole Genome Sequence Variants in Cattle Breeding by :

Download or read book Exploiting Whole Genome Sequence Variants in Cattle Breeding written by and published by . This book was released on 2017 with total page 249 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Studying Correlations between Genetic Variation and Test Score Gaps

Author : Gregory Connor
Publisher : Cambridge Scholars Publishing
ISBN 13 : 1527575675
Total Pages : 360 pages
Book Rating : 4.5/5 (275 download)

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Book Synopsis Studying Correlations between Genetic Variation and Test Score Gaps by : Gregory Connor

Download or read book Studying Correlations between Genetic Variation and Test Score Gaps written by Gregory Connor and published by Cambridge Scholars Publishing. This book was released on 2024-02-07 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is an edited collection of recently published papers on the sources of average test score gaps when analysed through the lenses of race and ethnicity, socio-economic status, and biogeographic ancestries such as European, African, and East Asian ancestry. It brings together exciting recent findings that rely on powerful DNA-based methods developed in the last few decades. The book also considers the public policy question as to whether, and how, these findings should be disseminated to the general public audience.

Bioinformatics and Human Genomics Research

Author : Diego A. Forero
Publisher : CRC Press
ISBN 13 : 1000405672
Total Pages : 374 pages
Book Rating : 4.0/5 (4 download)

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Book Synopsis Bioinformatics and Human Genomics Research by : Diego A. Forero

Download or read book Bioinformatics and Human Genomics Research written by Diego A. Forero and published by CRC Press. This book was released on 2021-12-22 with total page 374 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in high-throughput biological methods have led to the publication of a large number of genome-wide studies in human and animal models. In this context, recent tools from bioinformatics and computational biology have been fundamental for the analysis of these genomic studies. The book Bioinformatics and Human Genomics Research provides updated and comprehensive information about multiple approaches of the application of bioinformatic tools to research in human genomics. It covers strategies analysis of genome-wide association studies, genome-wide expression studies and genome-wide DNA methylation, among other topics. It provides interesting strategies for data mining in human genomics, network analysis, prediction of binding sites for miRNAs and transcription factors, among other themes. Experts from all around the world in bioinformatics and human genomics have contributed chapters in this book. Readers will find this book as quite useful for their in silico explorations, which would contribute to a better and deeper understanding of multiple biological processes and of pathophysiology of many human diseases.

Handbook of Statistical Genomics

Author : David J. Balding
Publisher : John Wiley & Sons
ISBN 13 : 1119429250
Total Pages : 1828 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Handbook of Statistical Genomics by : David J. Balding

Download or read book Handbook of Statistical Genomics written by David J. Balding and published by John Wiley & Sons. This book was released on 2019-07-09 with total page 1828 pages. Available in PDF, EPUB and Kindle. Book excerpt: A timely update of a highly popular handbook on statistical genomics This new, two-volume edition of a classic text provides a thorough introduction to statistical genomics, a vital resource for advanced graduate students, early-career researchers and new entrants to the field. It introduces new and updated information on developments that have occurred since the 3rd edition. Widely regarded as the reference work in the field, it features new chapters focusing on statistical aspects of data generated by new sequencing technologies, including sequence-based functional assays. It expands on previous coverage of the many processes between genotype and phenotype, including gene expression and epigenetics, as well as metabolomics. It also examines population genetics and evolutionary models and inference, with new chapters on the multi-species coalescent, admixture and ancient DNA, as well as genetic association studies including causal analyses and variant interpretation. The Handbook of Statistical Genomics focuses on explaining the main ideas, analysis methods and algorithms, citing key recent and historic literature for further details and references. It also includes a glossary of terms, acronyms and abbreviations, and features extensive cross-referencing between chapters, tying the different areas together. With heavy use of up-to-date examples and references to web-based resources, this continues to be a must-have reference in a vital area of research. Provides much-needed, timely coverage of new developments in this expanding area of study Numerous, brand new chapters, for example covering bacterial genomics, microbiome and metagenomics Detailed coverage of application areas, with chapters on plant breeding, conservation and forensic genetics Extensive coverage of human genetic epidemiology, including ethical aspects Edited by one of the leading experts in the field along with rising stars as his co-editors Chapter authors are world-renowned experts in the field, and newly emerging leaders. The Handbook of Statistical Genomics is an excellent introductory text for advanced graduate students and early-career researchers involved in statistical genetics.

Tandem Repeat Polymorphisms

Author : Anthony J. Hannan
Publisher : Springer Science & Business Media
ISBN 13 : 1461454344
Total Pages : 208 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Tandem Repeat Polymorphisms by : Anthony J. Hannan

Download or read book Tandem Repeat Polymorphisms written by Anthony J. Hannan and published by Springer Science & Business Media. This book was released on 2013-07-30 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book addresses the role of tandem repeat polymorphisms (TRPs) in genetic plasticity, evolution, development, biological processes, neural diversity, brain function, dysfunction and disease. There are hundreds of thousands of unique tandem repeats in the human genome and their polymorphic distributions have the potential to greatly influence functional diversity and disease susceptibility. Recent discoveries in this expanding field are critically reviewed and discussed in a range of subsequent chapters, with a focus on the role of TRPs and their various gene products in evolution, development, diverse molecular and cellular processes, brain function and disease.

An Evidence Framework for Genetic Testing

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309453291
Total Pages : 149 pages
Book Rating : 4.3/5 (94 download)

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Book Synopsis An Evidence Framework for Genetic Testing by : National Academies of Sciences, Engineering, and Medicine

Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Genetic Dissection of Complex Traits

Author : D.C. Rao
Publisher : Academic Press
ISBN 13 : 0080569110
Total Pages : 788 pages
Book Rating : 4.0/5 (85 download)

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Book Synopsis Genetic Dissection of Complex Traits by : D.C. Rao

Download or read book Genetic Dissection of Complex Traits written by D.C. Rao and published by Academic Press. This book was released on 2008-04-23 with total page 788 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of genetics is rapidly evolving and new medical breakthroughs are occuring as a result of advances in knowledge of genetics. This series continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines. Five sections on the latest advances in complex traits Methods for testing with ethical, legal, and social implications Hot topics include discussions on systems biology approach to drug discovery; using comparative genomics for detecting human disease genes; computationally intensive challenges, and more

Flow Cytometry

Author : Alice Longobardi Givan
Publisher : John Wiley & Sons
ISBN 13 : 1118688392
Total Pages : 309 pages
Book Rating : 4.1/5 (186 download)

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Book Synopsis Flow Cytometry by : Alice Longobardi Givan

Download or read book Flow Cytometry written by Alice Longobardi Givan and published by John Wiley & Sons. This book was released on 2013-04-10 with total page 309 pages. Available in PDF, EPUB and Kindle. Book excerpt: Flow cytometry continually amazes scientists with its ever-expanding utility. Advances in flow cytometry have opened new directions in theoretical science, clinical diagnosis, and medical practice. The new edition of Flow Cytometry: First Principles provides a thorough update of this now classic text, reflecting innovations in the field while outlining the fundamental elements of instrumentation, sample preparation, and data analysis. Flow Cytometry: First Principles, Second Edition explains the basic principles of flow cytometry, surveying its primary scientific and clinical applications and highlighting state-of-the-art techniques at the frontiers of research. This edition contains extensive revisions of all chapters, including new discussions on fluorochrome and laser options for multicolor analysis, an additionalsection on apoptosis in the chapter on DNA, and new chapters onintracellular protein staining and cell sorting, including high-speed sorting and alternative sorting methods, as well as traditional technology. This essential resource: Assumes no prior knowledge of flow cytometry Progresses with an informal, engaging lecture style from simpleto more complex concepts Offers a clear introduction to new vocabulary, principles of instrumentation, and strategies for data analysis Emphasizes the theory relevant to all flow cytometry, with examples from a variety of clinical and scientific fields Flow Cytometry: First Principles, Second Edition provides scientists, clinicians, technologists, and students with the knowledge necessary for beginning the practice of flow cytometry and for understanding related literature.

Concepts of Epidemiology

Author : Raj S. Bhopal
Publisher : Oxford University Press
ISBN 13 : 0198739680
Total Pages : 481 pages
Book Rating : 4.1/5 (987 download)

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Book Synopsis Concepts of Epidemiology by : Raj S. Bhopal

Download or read book Concepts of Epidemiology written by Raj S. Bhopal and published by Oxford University Press. This book was released on 2016 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: First edition published in 2002. Second edition published in 2008.

Genomics of Rare Diseases

Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 318 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui

Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

Biodemography of Aging

Author : Anatoliy I. Yashin
Publisher : Springer
ISBN 13 : 9401775877
Total Pages : 470 pages
Book Rating : 4.4/5 (17 download)

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Book Synopsis Biodemography of Aging by : Anatoliy I. Yashin

Download or read book Biodemography of Aging written by Anatoliy I. Yashin and published by Springer. This book was released on 2016-08-22 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is a critical exposition of the data and analyses from a full decade of rigorous research into how age-related changes at the individual level, along with other factors, contribute to morbidity, disability and mortality risks at the broader population level. After summarizing the state of our knowledge in the field, individual chapters offer enlightening discussion on a range of key topics such as age trajectory analysis in select and general populations, incidence/age patterns of major chronic illnesses, and indices of cumulative deficits and their use in characterizing and understanding the detailed properties of individual aging. The book features comprehensive statistical analyses of unique longitudinal data sets including the unique resource of the Framingham Heart Study, with its more than 60 years of follow-up. Culminating in penetrating conclusions about the insights gained from the work involved, this book adds much to our understanding of the links between aging and human health.

The Encyclopaedia of Sports Medicine, Genetic and Molecular Aspects of Sports Performance

Author : Claude Bouchard
Publisher : John Wiley & Sons
ISBN 13 : 1444348299
Total Pages : 584 pages
Book Rating : 4.4/5 (443 download)

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Book Synopsis The Encyclopaedia of Sports Medicine, Genetic and Molecular Aspects of Sports Performance by : Claude Bouchard

Download or read book The Encyclopaedia of Sports Medicine, Genetic and Molecular Aspects of Sports Performance written by Claude Bouchard and published by John Wiley & Sons. This book was released on 2011-08-02 with total page 584 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the latest volume in the IOC Encyclopaedia of Sports Medicine series, summarizing the evidence from all relevant sources on the genetic and molecular basis of sports and other human physical performance. The initial chapters address the basic science of genomics and genetics and the regulation of gene expression. Additional chapters provide authoritative information on the genetics of complex performance phenotypes, the contributions of small animal research, family and twin studies, and ethnic comparisons. A final section addresses the issue of the contribution of specific genes and molecular markers as related to endurance, strength and power, and responsiveness to specific conditioning programs. This latest volume in the Encyclopaedia of Sports Medicine Series from the Medical Commission of the International Olympic Committee is a must for sports and exercise scientists who require a thorough guide to the most cutting edge science in this expanding field.