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Author : David Neil Cooper
Publisher : Unknown
Page : 1072 pages
File Size : 42,9 Mb
Release : 2003
Category : Human genetics
ISBN : UOM:39015056925871
Author : David Neil Cooper
Publisher : Unknown
Page : 1058 pages
File Size : 42,9 Mb
Release : 2003
Category : Genetics
ISBN : UOM:39015056925889
Author : Dr. David N. Cooper
Publisher : Natures Pub Limited
Page : 1135 pages
File Size : 52,5 Mb
Release : 2003-01-01
Category : Electronic books
ISBN : 0333803868
Nature Encyclopedia of the Human Genome is the only reference resource devoted entirely to the scientific basis and genetics and genomics research and the complex commercial, philosophical, and ethical questions that arise from it. It presents a comprehensive and rigorously detailed overview of current genome science and its groundbreaking applications, examining the many topics that surround the field from the differing perspectives of history, philosophy, ethics, law, medicine, public health, and industry. Core areas covered include: structural genomics, functional genomics, chromosome structure and function, evolution and comparative genomics, genome mapping and sequencing, genes and disease, behavioural and psychiatric genetics, mathematical and population genetics, proteomics, bioinformatics, ethical, legal and social issues and biographies or key figures.
Author : Giuseppe Gasparre,Anna Maria Porcelli
Publisher : Academic Press
Page : 594 pages
File Size : 40,5 Mb
Release : 2020-08-19
Category : Science
ISBN : 9780128196564
The Human Mitochondrial Genome: From Basic Biology to Disease offers a comprehensive, up-to-date examination of human mitochondrial genomics, connecting basic research to translational medicine across a range of disease types. Here, international experts discuss the essential biology of human mitochondrial DNA (mtDNA), including its maintenance, repair, segregation, and heredity. Furthermore, mtDNA evolution and exploitation, mutations, methods, and models for functional studies of mtDNA are dealt with. Disease discussion is accompanied by approaches for treatment strategies, with disease areas discussed including cancer, neurodegenerative, age-related, mtDNA depletion, deletion, and point mutation diseases. Nucleosides supplementation, mitoTALENs, and mitoZNF nucleases are among the therapeutic approaches examined in-depth. With increasing funding for mtDNA studies, many clinicians and clinician scientists are turning their attention to mtDNA disease association. This book provides the tools and background knowledge required to perform new, impactful research in this exciting space, from distinguishing a haplogroup-defining variant or disease-related mutation to exploring emerging therapeutic pathways. Fully examines recent advances and technological innovations in the field, enabling new mtDNA studies, variant and mutation identification, pathogenic assessment, and therapies Disease discussion accompanied by diagnostic and therapeutic strategies currently implemented clinically Outlines and discusses essential research protocols and perspectives for young scientists to pick up Features an international team of authoritative contributors from basic biologists to clinician-scientists
Author : David N. Cooper
Publisher : Wiley
Page : 0 pages
File Size : 49,6 Mb
Release : 2003-08-01
Category : Science
ISBN : 0470016183
“Remarkably comprehensive, this set contains articles dealing with both current aspects and historical development of human genomic analysis, interpreted broadly.” CHOICE “An excellent addition to library collections supporting genome research; recommended for academic libraries.” LIBRARY JOURNAL The Encyclopedia of the Human Genome (EHG) is devoted to the scientific basis of human genetics and genomics research and its ethical, philosophical, and commercial ramifications. Presenting a comprehensive and rigorously detailed overview of current research and its groundbreaking applications, this major reference work examines many peripheral topics surrounding the field such as law, ethics, medicine and public health, history, religion and industry. The Encyclopedia of the Human Genome (EHG) includes: 5 Volumes 5,000 pages – 3 million words 1,047 original, peer-reviewed articles Contributions from 1,400 of the world’s leading experts 1,500 illustrations
Author : David N. Cooper,Hildegard Kehrer-Sawatzki
Publisher : John Wiley & Sons
Page : 936 pages
File Size : 52,8 Mb
Release : 2008-10-13
Category : Science
ISBN : STANFORD:36105210669144
"This splendid compendium ... will be the standard reference work for years to come: a handbook to browse, to consult, to look things up in, and to read with pleasure, wonder and post-Darwinian exhilaration." —Richard Dawkins "This is a marvellous book… It should be in every university library - preferably in several copies - and every reader of this journal should add it to their next grant application. It really is that good... I have already found this book to be invaluable… For many years to come, these two volumes will be the starting point for anyone wishing to find out about virtually any subject relating to human genetics… Any scientist working on humans or other animals will find many things in these pages that will stimulate, inform and inspire. The authors, editors and publishers are to be congratulated for their work… order a copy now!" —HUMAN GENETICS "The publishers and editors deserve to be congratulated for publishing this major book which coincides with the 200th anniversary of the birth of Charles Darwin. The book is well-timed, with biologists, theologians and sociologists engaged in intense debate on the Darwinian Theory on the origin of species, evolution and natural selection… There is little doubt that this marvellous publication should be in the library of universities and academic institutions dealing with basic and applied biology research and education… It will not be surprising if the individual academic or researcher decides to invest in this resource and enrich their personal collection of leading books in genetics and genomics." —GENOMIC MEDICINE A Unique Collection of High-Quality Articles – Derived from the Acclaimed Encyclopedia of Life Sciences The revolution in human molecular genetics which has taken place over the last three decades has yielded a wealth of information not only on the structure and function of our genes, but also on gene expression, mutation and polymorphic variation. Over the last five years, the focus has moved from genes to genomes. Even though the annotation of our ~30,000 genes is still in progress, genome-wide studies have already yielded abundant evidence for the signatures of past selection and adaptive evolution within human gene sequences. Further, the completion of the sequencing of the 3 billion base-pair human genome, coupled with the increasing availability of other vertebrate genome sequences, has ushered in a new era of comparative genomics. We are now able to identify many of the molecular events (from the chromosomal level down to the single base-pair) that have occurred during vertebrate, mammalian, primate and hominid evolution. Indeed, the detailed comparison of the human and chimpanzee genomes has begun to reveal some of the genetic changes that have been involved in the development of human lineage-specific traits. We are thus acquiring the ability to ask searching questions about our origins, about the demographic processes associated with the global radiation of humankind, as well as some of the unique adaptations that make us human. Evolutionary biology has become so broad that its impact may be felt across the spectrum of the biological sciences. The aim of the Handbook of Human Molecular Evolution is relatively straightforward: to bring together under the same cover the many and varied strands of our knowledge of human/primate/vertebrate molecular evolution. Hence, the 282 chapters that comprise this essential reference work have been thematically arranged into twelve sections, covering the whole scope of research into human molecular evolution: General Concepts in Evolutionary Genetics Mutation, Adaptation and Natural Selection Evolutionary and Population Genetics Human Evolution Human Genome Evolution Evolution of Human Gene Structure and Function Evolution of Gene Expression Mitochondrial Genome Evolution Chromosomal Evolution Comparative Genomics Evolution and Disease Susceptibility Analysis of Ancient DNA This conceptual outline informed the selection of the chapters themselves and the connections between them. Some of these chapters are intended to be introductory, aimed at undergraduates and non-specialists. They provide basic information and a list of recommended further reading to encourage the reader to explore a topic in more depth. This approach helps the student reader progress from textbook material to primary literature. Some chapters are overviews that address topics of broad interest and importance, while others focus on quite specialized topics. These chapters are written for postgraduate students and research workers; they contain more detailed information and key references allowing the reader to investigate a specific area in more depth. This format allows professionals to use the books as a quick reference source. The chapters are richly supplied with website information to allow access to relevant data sources over the internet. The self-contained, peer-reviewed articles in this unique handbook have been written by leading scientists in each field. Key topics include the evolution of enzyme function, the use of nucleic acid divergence as a "molecular clock", the origin of non-functional or junk DNA, the role of gene duplication in the emergence of novel gene function and the identification of molecular changes responsible for various human characteristics especially those pertaining to infection, cognition, disease and disease susceptibility. The Handbook of Human Molecular Evolution has adopted an integrated approach to the study of human evolution and seeks throughout to emphasize the interplay between molecular genetic concepts and principles on the one hand, and information acquisition and interpretation on the other. In this way, it is hoped that the ‘documents of evolutionary history’ written into the fabric of our genome, will become accessible to the widest possible audience.
Author : C. Cristofre Martin
Publisher : Springer Science & Business Media
Page : 363 pages
File Size : 53,9 Mb
Release : 2008-01-18
Category : Science
ISBN : 9781588297778
Here is a manual for an environmental scientist who wishes to embrace genomics to answer environmental questions. The volume covers: gene expression profiling, whole genome and chromosome mutation detection, and methods to assay genome diversity and polymorphisms within a particular environment. This book provides a systematic framework for determining environmental impact and ensuring human health and the sustainability of natural populations.
Author : David Neil Cooper
Publisher : Elsevier
Page : 520 pages
File Size : 49,6 Mb
Release : 1999-11-03
Category : Science
ISBN : 0121878708
Presents the principles of human gene evolution in a concise and easy to understand fashion. Uses examples of how evolutionary processes have molded present day genes, drawn from the evolution of humans and other primates, as well as from more primitive organisms. With increasing attention in this expanding area, this review forms a timely publication of our current knowledge of this important field. Structure and function in the human genome The evolution of gene structure Mutational mechanisms in evolution
Author : Naruya Saitou
Publisher : Springer
Page : 504 pages
File Size : 42,7 Mb
Release : 2018-10-25
Category : Computers
ISBN : 9783319926421
This authoritative textbook/reference presents a comprehensive introduction to the field of evolutionary genomics. The opening chapters describe the fundamental concepts in molecular biology and genome evolution for readers without any prior background in this area. This is followed by a detailed examination of genome evolution in various different groups of organisms. The text then concludes with a review of practical methods essential to researchers in the field. This updated and revised new edition also features historical perspectives on contributions to evolutionary genomics from related fields such as molecular evolution, genetics, and numerical taxonomy. Topics and features: introduces the basics of molecular biology, covering protein structure and diversity, as well as DNA replication, transcription, and translation; examines the phylogenetic relationships of DNA sequences, and the processes of mutation, neutral evolution, and natural selection; presents a brief evolutionary history of life, surveying the key features of the genomes of prokaryotes, eukaryotes, viruses and phages, vertebrates, and humans; reviews the various biological “omic” databases, and discusses the analysis of homologous nucleotide and amino acid sequences; provides an overview of the experimental sequencing of genomes and transcriptomes, and the construction of phylogenetic trees; describes methods for estimating of evolutionary distances, and performing studies of population genetics; supplies additional supporting material at an associated website. Serving as an indispensable textbook for graduate and advanced undergraduate courses on evolutionary genomics, this accessible overview will also prove invaluable to researchers from both computer science and the biological sciences seeking a primer on the field.
Author : Johannes Krause,Thomas Trappe
Publisher : Random House Trade Paperbacks
Page : 289 pages
File Size : 42,7 Mb
Release : 2022-04-19
Category : History
ISBN : 9780593229439
“Thrilling . . . a bracing summary of what we have learned [from] ‘archaeogenetics’—the study of ancient DNA . . . Krause and Trappe capture the excitement of this young field.”—Kyle Harper, The Wall Street Journal Johannes Krause is the director of the Max Planck Institute for Evolutionary Anthropology and a brilliant pioneer in the field of archaeogenetics—archaeology augmented by DNA sequencing technology—which has allowed scientists to reconstruct human history reaching back hundreds of thousands of years before recorded time. In this surprising account, Krause and journalist Thomas Trappe rewrite a fascinating chapter of this history, the peopling of Europe, that takes us from the Neanderthals and Denisovans to the present. We know now that a wave of farmers from Anatolia migrated into Europe 8,000 years ago, essentially displacing the dark-skinned, blue-eyed hunter-gatherers who preceded them. This Anatolian farmer DNA is one of the core genetic components of people with contemporary European ancestry. Archaeogenetics has also revealed that indigenous North and South Americans, though long thought to have been East Asian, also share DNA with contemporary Europeans. Krause and Trappe vividly introduce us to the prehistoric cultures of the ancient Europeans: the Aurignacians, innovative artisans who carved flutes and animal and human forms from bird bones more than 40,000 years ago; the Varna, who buried their loved ones with gold long before the Pharaohs of Egypt; and the Gravettians, big-game hunters who were Europe’s most successful early settlers until they perished in the ice age. Genetics has earned a reputation for smuggling racist ideologies into science, but cutting-edge science makes nonsense of eugenics and “pure” bloodlines. Immigration and genetic exchanges have always defined our species; who we are is a question of culture, not biological inheritance. This revelatory book offers us an entirely new way to understand ourselves, both past and present.
Author : George P. Rédei
Publisher : Springer Science & Business Media
Page : 2139 pages
File Size : 50,7 Mb
Release : 2008-04-25
Category : Medical
ISBN : 9781402067532
This new third edition updates a best-selling encyclopedia. It includes about 56% more words than the 1,392-page second edition of 2003. The number of illustrations increased to almost 2,000 and their quality has improved by design and four colors. It includes approximately 1,800 current databases and web servers. This encyclopedia covers the basics and the latest in genomics, proteomics, genetic engineering, small RNAs, transcription factories, chromosome territories, stem cells, genetic networks, epigenetics, prions, hereditary diseases, and patents. Similar integrated information is not available in textbooks or on the Internet.
Author : Naruya Saitou
Publisher : Springer
Page : 305 pages
File Size : 52,9 Mb
Release : 2018-02-08
Category : Science
ISBN : 9784431566038
This book reviews the human genome from an evolutionary perspective. No such book has ever been published before, although there are many books on human genomes. There are two parts in this book: Overview of the Human Genome (Part I) and The Human Genome Viewed through Genes (Part II). In Part I, after a brief review of human evolution and the human genome (by Naruya Saitou), chapters on rubbish or junk DNA (by Dan Graur), GC content heterogeneity (by Satoshi Oota), protein coding and RNA coding genes (by Tadashi Imanishi), duplicated genes (by Takashi Kitano), recombinations (by Montanucci and Bertranpetit), and copy number variations including microsatellites (by Naoko Takezaki) are discussed. Readers can obtain various new insights on the human genome from this part. In Part II, genes in X and Y chromosomes (by Yoko Satta and others), HLA genes (by Timothy A. Jinam), opsin genes (by Shoji Kawamura and Amanda D. Melin), genes related to phenotypic variations (by Ryosuke Kimura), transcription factors (by Mahoko Takahashi and So Nakagawa), diabetes-related genes (by Ituro Inoue), disease genes in general (by Ituro Inoue and Hirofumi Nakaoka), and microbial genomes (by Chaochun Wei) are discussed. The human genome sequences were determined in 2004, and after more than 10 years we are now beginning to understand the human genome from an evolutionary point of view. This book furnishes readers with a good summary of current research in the field.
Author : Stanley Maloy,Kelly Hughes
Publisher : Academic Press
Page : 4360 pages
File Size : 53,7 Mb
Release : 2013-03-03
Category : Science
ISBN : 9780080961569
The explosion of the field of genetics over the last decade, with the new technologies that have stimulated research, suggests that a new sort of reference work is needed to keep pace with such a fast-moving and interdisciplinary field. Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set, builds on the foundation of the first edition by addressing many of the key subfields of genetics that were just in their infancy when the first edition was published. The currency and accessibility of this foundational content will be unrivalled, making this work useful for scientists and non-scientists alike. Featuring relatively short entries on genetics topics written by experts in that topic, Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set provides an effective way to quickly learn about any aspect of genetics, from Abortive Transduction to Zygotes. Adding to its utility, the work provides short entries that briefly define key terms, and a guide to additional reading and relevant websites for further study. Many of the entries include figures to explain difficult concepts. Key terms in related areas such as biochemistry, cell, and molecular biology are also included, and there are entries that describe historical figures in genetics, providing insights into their careers and discoveries. This 7-volume set represents a 25% expansion from the first edition, with over 1600 articles encompassing this burgeoning field Thoroughly up-to-date, with many new topics and subfields covered that were in their infancy or not inexistence at the time of the first edition. Timely coverage of emergent areas such as epigenetics, personalized genomic medicine, pharmacogenetics, and genetic enhancement technologies Interdisciplinary and global in its outlook, as befits the field of genetics Brief articles, written by experts in the field, which not only discuss, define, and explain key elements of the field, but also provide definition of key terms, suggestions for further reading, and biographical sketches of the key people in the history of genetics
Author : Mark Stoneking
Publisher : John Wiley & Sons
Page : 400 pages
File Size : 44,9 Mb
Release : 2016-10-17
Category : Science
ISBN : 9781119051138
Molecular anthropology uses molecular genetic methods to address questions and issues of anthropological interest. More specifically, molecular anthropology is concerned with genetic evidence concerning human origins, migrations, and population relationships, including related topics such as the role of recent natural selection in human population differentiation, or the impact of particular social systems on patterns of human genetic variation. Organized into three major sections, An Introduction to Molecular Anthropology first covers the basics of genetics – what genes are, what they do, and how they do it – as well as how genes behave in populations and how evolution influences them. The following section provides an overview of the different kinds of genetic variation in humans, and how this variation is analyzed and used to make evolutionary inferences. The third section concludes with a presentation of the current state of genetic evidence for human origins, the spread of humans around the world, the role of selection and adaptation in human evolution, and the impact of culture on human genetic variation. A final, concluding chapter discusses various aspects of molecular anthropology in the genomics era, including personal ancestry testing and personal genomics. An Introduction to Molecular Anthropology is an invaluable resource for students studying human evolution, biological anthropology, or molecular anthropology, as well as a reference for anthropologists and anyone else interested in the genetic history of humans.
Author : Eleftheria Zeggini,Andrew Morris
Publisher : Springer
Page : 263 pages
File Size : 48,8 Mb
Release : 2015-08-13
Category : Medical
ISBN : 9781493928248
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.