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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.
This book presents the latest information on the genetics and genomics of the globe artichoke. It focuses on the latest findings, tools and strategies employed in genome sequencing, physical map development and QTL analyses, as well as genomic resources. The re-sequencing of four globe artichoke genotypes, representative of the core varietal types in cultivation, as well as the genotype of cultivated cardoon, has recently been completed. Here, the five genomes are reconstructed at the chromosome scale and annotated. Moreover, functional SNP analyses highlight numerous genetic variants, which represent key tools for dissecting the path from sequence variation to phenotype, as well as for designing effective diagnostic markers. The wealth of information provided here offers a valuable asset for scientists, plant breeders and students alike.
A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
This book describes the historical importance of potato (Solanum tuberosum L.),potato genetic resources and stocks (including S. tuberosum group Phureja DM1-3 516 R44, a unique doubled monoploid homozygous line) used for potato genome sequencing. It also discusses strategies and tools for high-throughput sequencing, sequence assembly, annotation, analysis, repetitive sequences and genotyping-by-sequencing approaches. Potato (Solanum tuberosum L.; 2n = 4x = 48) is the fourth most important food crop of the world after rice, wheat and maize and holds great potential to ensure both food and nutritional security. It is an autotetraploid crop with complex genetics, acute inbreeding depression and a highly heterozygous nature. Further, the book examines the recent discovery of whole genome sequencing of a few wild potato species genomes, genomics in management and genetic enhancement of Solanum species, new strategies towards durable potato late blight resistance, structural analysis of resistance genes, genomics resources for abiotic stress management, as well as somatic cell genetics and modern approaches in true-potato-seed technology. The complete genome sequence provides a better understanding of potato biology, underpinning evolutionary process, genetics, breeding and molecular efforts to improve various important traits involved in potato growth and development.
Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
This book describes the basic botanical features of kiwifruit and its wild relatives, reports on the steps that led to its genome sequencing, and discusses the results obtained with the assembly and annotation. The core chapters provide essential insights into the main gene families that characterize this species as a crop, including the genes controlling sugar and starch metabolism, pigment biosynthesis and degradation, the ascorbic-acid pathway, fruit softening and postharvest metabolism, allergens, and resistance to pests and diseases. The book offers a valuable reference guide for taxonomists, geneticists and horticulturists. Further, since information gained from the genome sequence is extraordinarily useful in assessing the breeding value of individuals based on whole-genome scans, it will especially benefit plant breeders. Accordingly, chapters are included that focus on gene introgression from wild relatives and genome-based breeding.
Die neueste Ausgabe des Goldstandards in der Krebsforschung und klinischen Onkologie Mit der neu überarbeiteten zehnten Ausgabe von Holland-Frei Cancer Medicine legt ein Team anerkannter Forscher und Ärzte einen umfassenden aktuellen Überblick über die Krebsforschung und die klinische onkologische Praxis vor. Das Werk enthält zeitgemäße und unverzichtbare Informationen aus den Bereichen Epidemiologie, Ätiologie, Krebsbiologie, Immunologie, Prävention, Screening, klinisches Erscheinungsbild, Pathologie, Bildgebung und Therapie. Ausgehend von einem grundlegenden Verständnis der Krebsbiologie stellt Holland-Frei Cancer Medicine eine Verbindung zwischen wissenschaftlichen Prinzipien und klinischer Praxis her. Das Buch enthält Hunderte farbiger Abbildungen und Fotos, Tabellen, Grafiken und Algorithmen, um die im Text erörterten komplexen Inhalte zu ergänzen und zu vertiefen. Das unverzichtbare klinische Lehrbuch ist darauf ausgelegt, die Inhalte mit separaten Zusammenfassungen, zusätzlichen Verweisen und anderen pädagogischen Merkmalen übersichtlich und leicht verständlich zu präsentieren. Außerdem bietet das Werk: * Einen integrierten translationalen Ansatz, der die Krebsbiologie mit dem Krebsmanagement verbindet * Einen starken Fokus auf die multidisziplinäre, forschungsorientierte Patientenversorgung, wodurch bessere Ergebnisse erzielt und der optimale Einsatz aller klinisch geeigneten Therapien ermöglicht werden sollen * Eine Erörterung des neuesten Trends der personalisierten Krebsbehandlung mit molekularer Diagnostik und Therapeutik Die zehnte Auflage von Holland-Frei Cancer Medicine richtet sich nicht nur an medizinische Onkologen, Strahlenonkologen und Internisten, sondern hat auch einen Platz in den Bibliotheken anderer Gesundheitsfachkräfte verdient, die sich mit der Behandlung von Krebspatienten beschäftigen. Dieses Werk wird in Zusammenarbeit mit der American Association for Cancer Research herausgegeben: https://www.aacr.org/
This book describes the strategy used for sequencing, assembling and annotating the tomato genome and presents the main characteristics of this sequence with a special focus on repeated sequences and the ancestral polyploidy events. It also includes the chloroplast and mitochondrial genomes. Tomato (Solanum lycopersicum) is a major crop plant as well as a model for fruit development, and the availability of the genome sequence has completely changed the paradigm of the species’ genetics and genomics. The book describes the numerous genetic and genomic resources available, the identified genes and quantitative trait locus (QTL) identified, as well as the strong synteny across Solanaceae species. Lastly, it discusses the consequences of the availability of a high-quality genome sequence of the cultivated species for the research community. It is a valuable resource for students and researchers interested in the genetics and genomics of tomato and Solanaceae.