eBooks: Genetics

Handbook of Epigenetics: The New Molecular and Medical Genetics, Third Edition provides a comprehensive analysis of epigenetics, from basic biology to clinical application. This new edition has been fully revised to cover the latest and evolving topics in epigenetics, with chapters updated and new chapters added on topics such as single-cell epigenetics, DNA methylation clocks in age-related diseases, transposable elements and epigenetics, X chromosome inactivation, and the epigenetics of drug addiction, among other topics. Throughout this edition, greater emphasis falls on epigenomic analyses and incorporating multi-omics approaches rather than gene-specific analyses. In addition, this edition has also been enhanced with step-by-step instructions in research methods, as well as easy-to-digest disease case studies and clinical trials that provide context and applied examples of recent advances in disease understanding and epigenetic therapeutics. These features empower researchers to reproduce the approaches and studies discussed and aid clinical translation. Live links across chapters tie in relevant external datasets and resources.

Computational Epigenetics and Diseases, written by leading scientists in this evolving field, provides a comprehensive and cutting-edge knowledge of computational epigenetics in human diseases. In particular, the major computational tools, databases, and strategies for computational epigenetics analysis, for example, DNA methylation, histone modifications, microRNA, noncoding RNA, and ceRNA, are summarized, in the context of human diseases. This book discusses bioinformatics methods for epigenetic analysis specifically applied to human conditions such as aging, atherosclerosis, diabetes mellitus, schizophrenia, bipolar disorder, Alzheimer disease, Parkinson disease, liver and autoimmune disorders, and reproductive and respiratory diseases. Additionally, different organ cancers, such as breast, lung, and colon, are discussed. This book is a valuable source for graduate students and researchers in genetics and bioinformatics, and several biomedical field members interested in applying computational epigenetics in their research.

"The Seventh Edition of this classic reference 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 to complete its coverage of this growing field 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. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application"--Publisher's description.

"[This book] describes, in a clear, approachable manner, the progression of the experiments that eventually led to our current understanding of DNA. This fascinating work tells the whole story from the discovery of DNA and its structure, how it replicates, codes for proteins, and our current ability to analyze and manipulate it in genetic engineering to begin to understand the central role of DNA in evolution, cancer, and aging. While telling the scientific story of DNA, this captivating treatise is further enhanced by brief sketches of the colorful lives and personalities of the key scientists and pioneers of DNA research. Major discoveries by Meischer, Darwin, and Mendel and their impacts are discussed, including the merging of the disciplines of genetics, evolutionary biology, and nucleic acid biochemistry, giving rise to molecular genetics. After tracing development of the gene concept, critical experiments are described and a new biological paradigm, the hologenome concept of evolution, is introduced and described. The final two chapters of the work focus on DNA as it relates to cancer and gerontology. This book provides readers with much-needed knowledge to help advance their understanding of the subject and stimulate further research. It will appeal to researchers, students, and others with diverse backgrounds within or beyond the life sciences, including those in biochemistry, genetics/molecular genetics, evolutionary biology, epidemiology, oncology, gerontology, cell biology, microbiology, and anyone interested in these mechanisms in life."--Provided by publisher.

Front Cover -- Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach -- Copyright Page -- Contents -- List of contributors -- Foreword -- Preface -- I. The Practice of Adult Genetics -- 1 Introduction to the practice of adult genetics -- Overview of the field of adult genetics -- Why is it necessary to learn more about this? -- How are we teaching our medical students? -- How are we training our genetics residents? -- Who will impart genetic care to adult patients? -- Why do we need a book like this? -- References -- 2 Basic concepts of genetics and genomics
Introduction -- Functional elements of the human genome -- Molecular architecture of DNA -- Nuclear and mitochondrial genomes -- Gene structure -- Human genomic variation -- Types of genetic and genomic variants -- Single-nucleotide variant -- Indel variants -- Large SVs -- Chromosomal variation -- Impact of genetic and genomic variation -- Modes of inheritance -- Autosomal Dominant (AD) -- Autosomal Recessive (AR) -- X-linked (XL) -- Mitochondrial -- Imprinting -- Digenic -- Complex inheritance -- Special considerations -- Dual molecular diagnoses -- Mutational burden -- Incomplete penetrance
Relevance to clinical care -- References -- 3 Genetic evaluation of an adult -- Introduction -- Approach to the patient -- Phenome-first approach -- Genome-first approach -- Understanding the family context -- How to apply diagnostic DNA technologies -- Clinical cytogenetics and chromosomal analysis -- DNA sequencing -- Choosing the right test -- Understanding the genetic and genomic contribution to disease -- Monogenic disease -- Polygenic disease -- Follow-up and management -- References -- 4 Genetic counseling for adults -- Introduction -- Finding healthcare providers with genetics expertise
Resources for patients and clinicians -- Principles of genetic counseling in the evaluation of adults -- Vignette 4.1 -- Contracting -- Approaches to history taking -- Personal history-special considerations in adults -- Elements of a pedigree -- Incomplete family history information -- Vignette 4.1 (contd.) -- Patient education and counseling -- Unique considerations for genetics evaluation and testing in adults -- Testing coordination -- Case management for adults -- References -- 5 Genetic testing in adults -- Introduction -- Basic principles and practical approach to genetic testing in adults
Cytogenetic testing -- Karyotyping -- Fluorescence in situ hybridization -- Chromosomal microarray -- Sequencing tests -- Single-gene testing -- Panel testing -- Exome sequencing -- Other tests -- Variant interpretation -- Genome sequencing -- Direct-to-consumer testing -- Clinical vignettes -- Vignette 5.1 -- Vignette 5.2 -- Vignette 5.3 -- Vignette 5.4 -- References -- 6 Transitioning to adult care -- Introduction -- Vignette 6.1 -- Psychosocial considerations -- Vignette 6.2 -- Education and employment -- Health insurance -- Medical decision-making and guardianship -- Vignette 6.3

Epigenetics in Human Disease, Second Edition examines the diseases and conditions on which we have advanced knowledge of epigenetic mechanisms, such as cancer, autoimmune disorders, aging, metabolic disorders, neurobiological disorders and cardiovascular disease. In addition to detailing the role of epigenetics in the etiology, progression, diagnosis and prognosis of these diseases, novel epigenetic approaches to treatment are also explored. Fully revised and up-to-date, this new edition discusses topics of current interest in epigenetic research, including stem cell epigenetic therapy, bioinformatic analysis of NGS data, and epigenetic mechanisms of imprinting disorders. Further sections explore online epigenetic tools and datasets, early-life programming of epigenetics in age-related diseases, the epigenetics of addiction and suicide, and epigenetic approaches to regulating and preventing diabetes, cardiac disease, allergic disorders, Alzheimer's disease, respiratory diseases, and many other human maladies.

"A gifted and thoughtful writer, Metzl brings us to the frontiers of biology and technology, and reveals a world full of promise and peril." ́ђؤ Siddhartha Mukherjee MD, New York Times bestselling author of The Emperor of All Maladies and The GenePassionate, provocative, and highly illuminating, Hacking Darwin is the must read book about the future of our species for fans of Homo Deus and The Gene. After 3.8℗¡billion years humankind is about to start evolving by new rules...From leading geopolitical expert and technology futurist Jamie Metzl comes a groundbreaking exploration of the many ways genetic-engineering is shaking the core foundations of our lives ́ђؤ sex, war, love, and death. At the dawn of the genetics revolution, our DNA is becoming as readable, writable, and hackable as our information technology. But as humanity starts retooling our own genetic code, the choices we make today will be the difference between realizing breathtaking advances in human well-being and descending into a dangerous and potentially deadly genetic arms race. Enter the laboratories where scientists are turning science fiction into reality. Look towards a future where our deepest beliefs, morals, religions, and politics are challenged like never before and the very essence of what it means to be human is at play. When we can engineer our future children, massively extend our lifespans, build life from scratch, and recreate the plant and animal world, should we?