Human Population Genetics And Genomics

Book Description :

Human Population Genetics and Genomics provides researchers/students with knowledge on population genetics and relevant statistical approaches to help them become more effective users of modern genetic, genomic and statistical tools. In-depth chapters offer thorough discussions of systems of mating, genetic drift, gene flow and subdivided populations, human population history, genotype and phenotype, detecting selection, units and targets of natural selection, adaptation to temporally and spatially variable environments, selection in age-structured populations, and genomics and society. As human genetics and genomics research often employs tools and approaches derived from population genetics, this book helps users understand the basic principles of these tools. In addition, studies often employ statistical approaches and analysis, so an understanding of basic statistical theory is also needed. Comprehensively explains the use of population genetics and genomics in medical applications and research Discusses the relevance of population genetics and genomics to major social issues, including race and the dangers of modern eugenics proposals Provides an overview of how population genetics and genomics helps us understand where we came from as a species and how we evolved into who we are now

Book Description :

In response to many requests, the Third Edition of A Primer of Population Genetics has been dramatically shortened and streamlined for greater accessibility. Designed primarily for undergraduates, it will also serve for graduate students and professionals in biology and other sciences who desire a concise but comprehensive overview of the field with a primary focus on the integration of experimental results with theory. The abundance of experimental data generated by the use of molecular methods to study genetic polymorphisms sparked a transformation in the field of population genetics. Present in virtually all organisms, molecular polymorphisms allow populations to be studied without regard to species or habitat, and without the need for controlled crosses, mutant genes, or for any prior genetic studies. Thus a familiarity with population genetics has become essential for any biologist whose work is at the population level. These fields include evolution, ecology, systematics, plant breeding, animal breeding, conservation and wildlife management, human genetics, and anthropology. Population genetics seeks to understand the causes of genetic differences within and among species, and molecular biology provides a rich repertoire of techniques for identifying these differences.

Book Description :

Population genomics has revolutionized various disciplines of biology including population, evolutionary, ecological and conservation genetics, plant and animal breeding, human health, medicine and pharmacology by allowing to address novel and long-standing questions with unprecedented power and accuracy. It employs large-scale or genome-wide genetic information and bioinformatics to address various fundamental and applied aspects in biology and related disciplines, and provides a comprehensive genome-wide perspective and new insights that were not possible before. These advances have become possible due to the development of new and low-cost sequencing and genotyping technologies and novel statistical approaches and software, bioinformatics tools, and models. Population genomics is tremendously advancing our understanding the roles of evolutionary processes, such as mutation, genetic drift, gene flow, and natural selection, in shaping up genetic variation at individual loci and across the genome and populations; improving the assessment of population genetic parameters or processes such as adaptive evolution, effective population size, gene flow, admixture, inbreeding and outbreeding depression, demography, and biogeography; resolving evolutionary histories and phylogenetic relationships of extant, ancient and extinct species; understanding the genomic basis of fitness, adaptation, speciation, complex ecological and economically important traits, and disease and insect resistance; facilitating forensics, genetic medicine and pharmacology; delineating conservation genetic units; and understanding the genetic effects of resource management practices, and assisting conservation and sustainable management of genetic resources. This Population Genomics book discusses the concepts, approaches, applications and promises of population genomics in addressing most of the above fundamental and applied crucial aspects in a variety of organisms from microorganisms to humans. The book provides insights into a range of emerging population genomics topics including population epigenomics, landscape genomics, seascape genomics, paleogenomics, ecological and evolutionary genomics, biogeography, demography, speciation, admixture, colonization and invasion, genomic selection, and plant and animal domestication. This book fills a vacuum in the field and is expected to become a primary reference in Population Genomics world-wide.

Book Description :

This textbook provides a concise introduction and useful overview of the field of human population genomics, making the highly technical and contemporary aspects more accessible to students and researchers from various fields. Over the past decade, there has been a deluge of genetic variation data from the entire genome of individuals from many populations. These data have allowed an unprecedented look at human history and how natural selection has impacted humans during this journey. Simultaneously, there have been increased efforts to determine how genetic variation affects complex traits in humans. Due to technological and methodological advances, progress has been made at determining the architecture of complex traits. Split in three parts, the book starts with the basics, followed by more advanced and current research. The first part provides an introduction to essential concepts in population genetics, which are relevant for any organism. The second part covers the genetics of complex traits in humans. The third part focuses on applying these techniques and concepts to genetic variation data to learn about demographic history and natural selection in humans. This new textbook aims to serve as a gateway to modern human population genetics research for those new to the field. It provides an indispensable resource for students, researchers and practitioners from disparate areas of expertise.

Book Description :

Making the theory of population genetics relevant to readers, this book explains the related mathematics with a logical organization. It presents the quantitative aspects of population genetics, and employs examples of human genetics, medical evolution, human evolution, and endangered species. For an introduction to, and understanding of, population genetics.

Book Description :

In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor’s office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines. Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more Explores ethical, legal, regulatory and economic aspects of genomics in medicine. Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics

Book Description :

A Primer of Population Genetics and Genomics has been completely revised and updated to provide a concise but comprehensive introduction to the basic concepts of population genetics and genomics. Recent textbooks have tended to focus on such specialized topics as the coalescent, molecular evolution, human population genetics, or genomics. This primer bucks that trend by encouraging a broader familiarity with, and understanding of, population genetics and genomics as a whole. The overview ranges from mating systems through the causes of evolution, molecular population genetics, and the genomics of complex traits. Interwoven are discussions of ancient DNA, gene drive, landscape genetics, identifying risk factors for complex diseases, the genomics of adaptation and speciation, and other active areas of current research. The principles are illuminated by numerous examples from a wide variety of animals, plants, microbes, and human populations. The approach also emphasizes learning by doing, which in this case means solving numerical or conceptual problems. The rationale behind this is that the use of concepts in problem-solving lead to deeper understanding and longer knowledge retention. This accessible, introductory textbook is aimed principally at students of various levels and abilities (from senior undergraduate to postgraduate) as well as practising scientists in the fields of population genetics, ecology, evolutionary biology, computational biology, bioinformatics, biostatistics, physics, and mathematics.

Book Description :

The past few years have witnessed a revolution in our ability to obtain DNA from ancient humans. This important new data has added to our knowledge from archaeology and anthropology, helped resolve long-existing controversies, challenged long-held views, and thrown up remarkable surprises. The emerging picture is one of many waves of ancient human migrations, so that all populations living today are mixes of ancient ones, and often carry a genetic component from archaic humans. David Reich, whose team has been at the forefront of these discoveries, explains what genetics is telling us about ourselves and our complex and often surprising ancestry. Gone are old ideas of any kind of racial âpurity.' Instead, we are finding a rich variety of mixtures. Reich describes the cutting-edge findings from the past few years, and also considers the sensitivities involved in tracing ancestry, with science sometimes jostling with politics and tradition. He brings an important wider message: that we should recognize that every one of us is the result of a long history of migration and intermixing of ancient peoples, which we carry as ghosts in our DNA. What will we discover next?

Book Description :

Introductory guide to human population genetics and microevolutionary theory Providing an introduction to mathematical population genetics, Human Population Genetics gives basic background on the mechanisms of human microevolution. This text combines mathematics, biology, and anthropology and is best suited for advanced undergraduate and graduate study. Thorough and accessible, Human Population Genetics presents concepts and methods of population genetics specific to human population study, utilizing uncomplicated mathematics like high school algebra and basic concepts of probability to explain theories central to the field. By describing changes in the frequency of genetic variants from one generation to the next, this book hones in on the mathematical basis of evolutionary theory. Human Population Genetics includes: Helpful formulae for learning ease Graphs and analogies that make basic points and relate the evolutionary process to mathematical ideas Glossary terms marked in boldface within the book the first time they appear In-text citations that act as reference points for further research Exemplary case studies Topics such as Hardy-Weinberg equilibrium, inbreeding, mutation, genetic drift, natural selection, and gene flow Human Population Genetics solidifies knowledge learned in introductory biological anthropology or biology courses and makes it applicable to genetic study. NOTE: errata for the first edition can be found at the author's website: http://employees.oneonta.edu/relethjh/HPG/errata.pdf

Book Description :

Population Genomics With R presents a multidisciplinary approach to the analysis of population genomics. The methods treated cover a large number of topics from traditional population genetics to large-scale genomics with high-throughput sequencing data. Several dozen R packages are examined and integrated to provide a coherent software environment with a wide range of computational, statistical, and graphical tools. Small examples are used to illustrate the basics and published data are used as case studies. Readers are expected to have a basic knowledge of biology, genetics, and statistical inference methods. Graduate students and post-doctorate researchers will find resources to analyze their population genetic and genomic data as well as help them design new studies. The first four chapters review the basics of population genomics, data acquisition, and the use of R to store and manipulate genomic data. Chapter 5 treats the exploration of genomic data, an important issue when analysing large data sets. The other five chapters cover linkage disequilibrium, population genomic structure, geographical structure, past demographic events, and natural selection. These chapters include supervised and unsupervised methods, admixture analysis, an in-depth treatment of multivariate methods, and advice on how to handle GIS data. The analysis of natural selection, a traditional issue in evolutionary biology, has known a revival with modern population genomic data. All chapters include exercises. Supplemental materials are available on-line (http://ape-package.ird.fr/PGR.html).

Book Description :

This book assesses the scientific value and merit of research on human genetic differences--including a collection of DNA samples that represents the whole of human genetic diversity--and the ethical, organizational, and policy issues surrounding such research. Evaluating Human Genetic Diversity discusses the potential uses of such collection, such as providing insight into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.

Book Description :

A thought-provoking exploration of deleterious mutations in the human genome and their effects on human health and wellbeing Despite all of the elaborate mechanisms that a cell employs to handle its DNA with the utmost care, a newborn human carries about 100 new mutations, originated in their parents, about 10 of which are deleterious. A mutation replacing just one of the more than three billion nucleotides in the human genome may lead to synthesis of a dysfunctional protein, and this can be inconsistent with life or cause a tragic disease. Several percent of even young people suffer from diseases that are caused, exclusively or primarily, by pre ]existing and new mutations in their genomes, including both a wide variety of genetically simple Mendelian diseases and diverse complex diseases such as birth anomalies, diabetes, and schizophrenia. Milder, but still substantial, negative effects of mutations are even more pervasive. As of now, we possess no means of reducing the rate at which mutations appear spontaneously. However, the recent flood of genomic data made possible by next-generation methods of DNA sequencing, enabled scientists to explore the impacts of deleterious mutations on humans with previously unattainable precision and begin to develop approaches to managing them. Written by a leading researcher in the field of evolutionary genetics, Crumbling Genome reviews the current state of knowledge about deleterious mutations and their effects on humans for those in the biological sciences and medicine, as well as for readers with only a general scientific literacy and an interest in human genetics. Provides an extensive introduction to the fundamentals of evolutionary genetics with an emphasis on mutation and selection Discusses the effects of pre-existing and new mutations on human genotypes and phenotypes Provides a comprehensive review of the current state of knowledge in the field and considers crucial unsolved problems Explores key ethical, scientific, and social issues likely to become relevant in the near future as the modification of human germline genotypes becomes technically feasible Crumbling Genome is must-reading for students and professionals in human genetics, genomics, bioinformatics, evolutionary biology, and biological anthropology. It is certain to have great appeal among all those with an interest in the links between genetics and evolution and how they are likely to influence the future of human health, medicine, and society.

Book Description :

What are the genomic signatures of adaptations in DNA? How often does natural selection dictate changes to DNA? How does the ebb and flow in the abundance of individuals over time get marked onto chromosomes to record genetic history? Molecular population genetics seeks to answer such questions by explaining genetic variation and molecular evolution from micro-evolutionary principles. It provides a way to learn about how evolution works and how it shapes species by incorporating molecular details of DNA as the heritable material. It enables us to understand the logic of how mutations originate, change in abundance in populations, and become fixed as DNA sequence divergence between species. With the revolutionary advances in genomic data acquisition, understanding molecular population genetics is now a fundamental requirement for today's life scientists. These concepts apply in analysis of personal genomics, genome-wide association studies, landscape and conservation genetics, forensics, molecular anthropology, and selection scans. This book introduces, in an accessible way, the bare essentials of the theory and practice of molecular population genetics.

Book Description :

Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.

Book Description :

Genetics and Evolution of Infectious Diseases is at the crossroads between two major scientific fields of the 21st century: evolutionary biology and infectious diseases. The genomic revolution has upset modern biology and has revolutionized our approach to ancient disciplines such as evolutionary studies. In particular, this revolution is profoundly changing our view on genetically driven human phenotypic diversity, and this is especially true in disease genetic susceptibility. Infectious diseases are indisputably the major challenge of medicine. When looking globally, they are the number one killer of humans and therefore the main selective pressure exerted on our species. Even in industrial countries, infectious diseases are now far less under control than 20 years ago. The first part of this book covers the main features and applications of modern technologies in the study of infectious diseases. The second part provides detailed information on a number of the key infectious diseases such as malaria, SARS, avian flu, HIV, tuberculosis, nosocomial infections and a few other pathogens that will be taken as examples to illustrate the power of modern technologies and the value of evolutionary approaches. Takes an integrated approach to infectious diseases Includes contributions from leading authorities Provides the latest developments in the field

Book Description :

Population Genetics and Microevolutionary Theory Explore the fundamentals of the biological implications of population genetic theory In the newly revised Second Edition of Population Genetics and Microevolutionary Theory, accomplished researcher and author Alan R. Templeton delivers a fulsome discussion of population genetics with coverage of exciting new developments in the field, including new discoveries in epigenetics and genome-wide studies. The book prepares students to successfully apply population genetics analytical tools by providing a solid foundation in microevolutionary theory. The book emphasizes that population structure forms the underlying template upon which quantitative genetics and natural selection operate and is a must-read for future population and evolutionary geneticists and those who wish to work in genetic epidemiology or conservation biology. You’ll learn about a wide array of topics, including quantitative genetics, the interactions of natural selection with other evolutionary forces, and selection in heterogeneous environments and age-structured populations. Appendices that cover genetic survey techniques and probability and statistics conclude the book. Readers will also benefit from the inclusion of: A thorough introduction to population genetics, including the scope of the subject, its premises, and the Hardy-Weinberg Model of Microevolution An exploration of systems of mating, including a treatment of the use of runs of homozygosity to show pedigree inbreeding in distant ancestors A practical discussion of genetic drift, including the use of effective sizes in conservation biology (with a discussion of African rhinos as an example) A concise examination of coalescence, including a treatment of the infinite sites model Perfect for graduate students in genetics and evolutionary biology programs and advanced undergraduate biology majors, Population Genetics and Microevolutionary Theory will also earn a place in the libraries of students taking courses in conservation biology, human genetics, bioinformatics, and genomics.

Book Description :

Human Evolutionary Genetics is a groundbreaking text which for the first time brings together molecular genetics and genomics to the study of the origins and movements of human populations. Starting with an overview of molecular genomics for the non-specialist (which can be a useful review for those with a more genetic background), the book shows h

Book Description :

There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.

Book Description :

In 2001, scientists were finally able to determine the full human genome sequence, and with the discovery began a genomic voyage back in time. Since then, we have sequenced the full genomes of a number of mankind's primate relatives at a remarkable rate. The genomes of the common chimpanzee (2005) and bonobo (2012), orangutan (2011), gorilla (2012), and macaque monkey (2007) have already been identified, and the determination of other primate genomes is well underway. Researchers are beginning to unravel our full genomic history, comparing it with closely related species to answer age-old questions about how and when we evolved. For the first time, we are finding our own ancestors in our genome and are thereby gleaning new information about our evolutionary past. In Ancestors in Our Genome, molecular anthropologist Eugene E. Harris presents us with a complete and up-to-date account of the evolution of the human genome and our species. Written from the perspective of population genetics, and in simple terms, the book traces human origins back to their source among our earliest human ancestors, and explains many of the most intriguing questions that genome scientists are currently working to answer. For example, what does the high level of discordance among the gene trees of humans and the African great apes tell us about our respective separations from our common ancestor? Was our separation from the apes fast or slow, and when and why did it occur? Where, when, and how did our modern species evolve? How do we search across genomes to find the genomic underpinnings of our large and complex brains and language abilities? How can we find the genomic bases for life at high altitudes, for lactose tolerance, resistance to disease, and for our different skin pigmentations? How and when did we interbreed with Neandertals and the recently discovered ancient Denisovans of Asia? Harris draws upon extensive experience researching primate evolution in order to deliver a lively and thorough history of human evolution. Ancestors in Our Genome is the most complete discussion of our current understanding of the human genome available.

Book Description :

Biodiversity-the genetic variety of life-is an exuberant product of the evolutionary past, a vast human-supportive resource (aesthetic, intellectual, and material) of the present, and a rich legacy to cherish and preserve for the future. Two urgent challenges, and opportunities, for 21st-century science are to gain deeper insights into the evolutionary processes that foster biotic diversity, and to translate that understanding into workable solutions for the regional and global crises that biodiversity currently faces. A grasp of evolutionary principles and processes is important in other societal arenas as well, such as education, medicine, sociology, and other applied fields including agriculture, pharmacology, and biotechnology. The ramifications of evolutionary thought also extend into learned realms traditionally reserved for philosophy and religion. The central goal of the In the Light of Evolution (ILE) series is to promote the evolutionary sciences through state-of-the-art colloquia-in the series of Arthur M. Sackler colloquia sponsored by the National Academy of Sciences-and their published proceedings. Each installment explores evolutionary perspectives on a particular biological topic that is scientifically intriguing but also has special relevance to contemporary societal issues or challenges. This tenth and final edition of the In the Light of Evolution series focuses on recent developments in phylogeographic research and their relevance to past accomplishments and future research directions.