Assessing Rare Variation in Complex Traits

Author: Eleftheria Zeggini
Publisher: Springer
ISBN: 1493928244
Format: PDF, ePub, Docs
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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 Encyclopaedia of Sports Medicine An IOC Medical Commission Publication Genetic and Molecular Aspects of Sports Performance

Author: Claude Bouchard
Publisher: John Wiley & Sons
ISBN: 1444348299
Format: PDF, ePub
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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.

Vitamin D

Author: David Feldman
Publisher: Academic Press
ISBN: 9780123819796
Format: PDF, Mobi
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Vitamin D, a steroid hormone, has mainly been known for its effects on bone and osteoporosis. The current therapeutic practices expand into such markets as cancer research, pediatrics, nephrology, dermatology, immunology, and genetics. This 3e includes over 100 chapters covering everything from chemistry and metabolism to mechanisms of action, diagnosis and management, new analogs, and emerging therapies. This complete reference works is a must-have resource for anyone working in endocrinology, osteology, bone biology, or cancer research. *Most comprehensive, up-to-date two-volume set on Vitamin D *Initial chapters cover the chemistry and metabolism of vitamin D, role in mineralization, other target organs, and general physiological effects *Second volume is more clinically oriented addressing deficiency problems (including diagnosis, interactions in the endocrine system, and involvement in malignancies) *Further sections on emerging uses for treatments of auto-immune diseases and diabetes *New chapters on squamous cell cancer, brain cancer, thyroid cancer and many more *Over 600 illustrations and figures available on CD

Integrating Omics Data

Author: George C. Tseng
Publisher: Cambridge University Press
ISBN: 1107069114
Format: PDF, ePub, Docs
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Tutorial chapters by leaders in the field introduce state-of-the-art methods to handle information integration problems of omics data.

Constraining Designs for Synthesis and Timing Analysis

Author: Sridhar Gangadharan
Publisher: Springer Science & Business Media
ISBN: 1461432693
Format: PDF, Mobi
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This book serves as a hands-on guide to timing constraints in integrated circuit design. Readers will learn to maximize performance of their IC designs, by specifying timing requirements correctly. Coverage includes key aspects of the design flow impacted by timing constraints, including synthesis, static timing analysis and placement and routing. Concepts needed for specifying timing requirements are explained in detail and then applied to specific stages in the design flow, all within the context of Synopsys Design Constraints (SDC), the industry-leading format for specifying constraints.

Genomics Circuits and Pathways in Clinical Neuropsychiatry

Author: Thomas Lehner
Publisher: Academic Press
ISBN: 0128005300
Format: PDF, Kindle
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This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics Identifies key concepts, methods, and findings Includes coverage of multiple disorders from autism to schizophrenia Reviews specific genes associated with disorders Discusses the genetic architecture of these syndromes Explains how recent findings are influencing the understanding of biology Clarifies the promise of these findings for future treatment

RUNX Proteins in Development and Cancer

Author: Yoram Groner
Publisher: Springer
ISBN: 9811032335
Format: PDF, ePub
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This volume provides the reader with an overview of the diverse functions of the RUNX family of genes. As highlighted in the introduction and several of the 29 chapters, humans and other mammals have three RUNX genes that are known to play specific roles in blood, bone and neuronal development. However, their evolutionary history has recently been traced back to unicellular organisms and their involvement in many well-known signaling pathways (Wnt, TGFb, Notch, Hippo) is indicative of a more general function in cell biology. Their documented roles in cell fate decisions include control of proliferation, differentiation, survival, senescence and autophagy. The pleiotropic effects of RUNX in development are mirrored in cancer, where RUNX genes can function as oncogenes that collaborate strongly with Myc family oncogenes or as tumour suppressor genes. In the latter role, they display hallmarks of both ‘gatekeepers’ that modulate p53 responses and ‘caretakers’ that protect the genome from DNA damage. Several chapters focus on the importance of these genes in leukemia research, where RUNX1 and CBFB are frequently affected by chromosomal translocations that generate fusion oncoproteins, while recent studies suggest wider roles for RUNX modulation in solid cancers. Moreover, RUNX genes are intimately involved in the development and regulation of the immune system, while emerging evidence suggests a role in innate immunity to infectious agents, including HIV. At the biochemical level, the RUNX family can serve as activators or repressors of transcription and as stable mediators of epigenetic memory through mitosis. Not surprisingly, RUNX activity is controlled at multiple levels, this includes miRNAs and a plethora of post-translational modifications. Several chapters highlight the interplay between the three mammalian RUNX genes, where cross-talk and partial functional redundancies are evident. Finally, structural analysis of the RUNX/CBFB interaction has led to the development of small molecule inhibitors that provide exciting new tools to decipher the roles of RUNX in development and as targets for therapy. This volume provides a compendium and reference source that will be of broad interest to cancer researchers, developmental biologists and immunologists.

The Design and Analysis of Algorithms

Author: Dexter C. Kozen
Publisher: Springer Science & Business Media
ISBN: 1461244005
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These are my lecture notes from CS681: Design and Analysis of Algo rithms, a one-semester graduate course I taught at Cornell for three consec utive fall semesters from '88 to '90. The course serves a dual purpose: to cover core material in algorithms for graduate students in computer science preparing for their PhD qualifying exams, and to introduce theory students to some advanced topics in the design and analysis of algorithms. The material is thus a mixture of core and advanced topics. At first I meant these notes to supplement and not supplant a textbook, but over the three years they gradually took on a life of their own. In addition to the notes, I depended heavily on the texts • A. V. Aho, J. E. Hopcroft, and J. D. Ullman, The Design and Analysis of Computer Algorithms. Addison-Wesley, 1975. • M. R. Garey and D. S. Johnson, Computers and Intractibility: A Guide to the Theory of NP-Completeness. w. H. Freeman, 1979. • R. E. Tarjan, Data Structures and Network Algorithms. SIAM Regional Conference Series in Applied Mathematics 44, 1983. and still recommend them as excellent references.

Clinical and Translational Science

Author: David Robertson
Publisher: Academic Press
ISBN: 012802111X
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Clinical and Translational Science: Principles of Human Research, Second Edition, is the most authoritative and timely resource for the broad range of investigators taking on the challenge of clinical and translational science, a field that is devoted to investigating human health and disease, interventions, and outcomes for the purposes of developing new treatment approaches, devices, and modalities to improve health. This updated second edition has been prepared with an international perspective, beginning with fundamental principles, experimental design, epidemiology, traditional and new biostatistical approaches, and investigative tools. It presents complete instruction and guidance from fundamental principles, approaches, and infrastructure, especially for human genetics and genomics, human pharmacology, research in special populations, the societal context of human research, and the future of human research. The book moves on to discuss legal, social, and ethical issues, and concludes with a discussion of future prospects, providing readers with a comprehensive view of this rapidly developing area of science. Introduces novel physiological and therapeutic strategies for engaging the fastest growing scientific field in both the private sector and academic medicine Brings insights from international leaders into the discipline of clinical and translational science Addresses drug discovery, drug repurposing and development, innovative and improved approaches to go/no-go decisions in drug development, and traditional and innovative clinical trial designs

Genes Behavior and the Social Environment

Author: Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health
Publisher: National Academies Press
ISBN: 0309101964
Format: PDF, Mobi
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Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.