Genes And Genomics

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

Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader

The Gossypium (cotton) genus presents novel opportunities to advance our understanding of the natural world and its organic evolution. In this book, advances of the past decade are summarized and synthesized to elucidate the current state of knowledge of the structure, function, and evolution of the Gossypium genome, and progress in the application of this knowledge to cotton improvement. This book provides the first comprehensive reference on cotton genomics.

A genome is an organism's complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that organism. In humans, a copy of the entire genome-more than three billion DNA base pairs-is contained in all cells that have a nucleus. Developmental Genetics studies how the genes regulate developmental changes in behavior and influence scientific approaches in several fields. It highlights the interdisciplinary approach of developmental genetics with new revolutionary technologies and details how these advances have accelerated our understanding of the molecular genetic processes that regulates development. Chromosomes come in matching sets of two (or pairs) and there are hundreds-sometimes thousands-of genes in just one chromosome. The chromosomes and genes are made of DNA, which is short for deoxyribonucleic. Genes, Genomes, and Genomics, with chapters written by internationally renowned experts, provide an enormous reservoir of new information in the various theoretical and applied aspects of unravelling the secrets hidden in the genes of plants, animals and microorganisms. A gene is the basic physical and functional unit of heredity. Genes, which are made up of DNA, act as instructions to make molecules called proteins. In humans, genes vary in size from a few hundred DNA bases to more than two million bases. Moreover, the book presents a thorough overview of a wide array of methodologies from classical genetics to modern genomics technologies.

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Genetics: Genes, Genomes, and Evolution unites evolution, genomics, and genetics in a single narrative approach. It is an approach that provides students with a uniquely flexible and contemporary view of genetics, genomics, and evolution.

With CRISPR/Cas gene editing tools in hand, we are currently experiencing a new dimension in genetic engineering. But where should the journey lead? Should we treat diseases or better repair them genetically? Will the new genetic engineering, combined with modern reproductive biology, lead to designer babies? And: May we allow a liberalization of these techniques as citizen science? New methods can precisely alter the genetic material - and they leave no traces. This gene and genome surgery thrives on increasing knowledge about the mode of action of genes, those trait-giving regions in the genome. This knowledge is being applied in practice, particularly in the breeding of more resistant and higher-yielding crops. And what about us? The author shows that gene variants have long been associated not only with diseases, but also with nutritional preferences or intelligence. Therapeutic and optimization options are close at hand. What effect does the environment have on the expression of genetic material? Genes can be shaped during a person's lifetime by the environment, nutrition or experiences and thus passed on to their offspring in a modified form. So, does society have a new form of long-term responsibility for (epi)genetic integrity? In this vividly and comprehensibly written book, the author explains the state of genetic engineering without assuming too much prior knowledge and invites an open dialogue on this ambivalent topic. Get your own idea of the fascinating yet intimidating possibilities of genetic engineering. Where do you stand on the issue? With the help of this book, you have the chance to form a differentiated opinion. This book is a translation of the original German 1st edition Generation Gen-Schere by Röbbe Wünschiers, published by Springer Fachmedien Wiesbaden GmbH, part of Springer Nature in 2019. The translation was done with the help of artificial intelligence (machine translation by the service DeepL.com). The text was subsequently revised by the author. Springer Nature works continuously to further the development of tools for the production of books and on the related technologies to support the authors.

Biological Sciences