An Introduction to Human Molecular Genetics
An Introduction to Human Molecular Genetics

Author: Jack J. Pasternak

Publisher: John Wiley & Sons

Published: 2005-06-14

Total Pages: 656

ISBN-13: 047171917X

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An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

Mapping and Sequencing the Human Genome
Mapping and Sequencing the Human Genome

Author: National Research Council

Publisher: National Academies Press

Published: 1988-01-01

Total Pages: 128

ISBN-13: 0309038405

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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.

Human Genes and Genomes
Human Genes and Genomes

Author: Leon E. Rosenberg

Publisher: Academic Press

Published: 2012-05-21

Total Pages: 447

ISBN-13: 0123852137

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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

Human Genetics: The Basics
Human Genetics: The Basics

Author: Ricki Lewis

Publisher: Garland Science

Published: 2010-10-06

Total Pages: 201

ISBN-13: 0203840585

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Human genetics has blossomed from an obscure branch of biological science and occasional explanation for exceedingly rare disorders to a field all of its own that affects everyone. Human Genetics: The Basics introduces the key questions and issues in this emerging field, including: The common ancestry of all humanity The role of genes in sickness and health Debates over the use of genetic technology Written in an engaging, narrative manner, this concise introduction is an ideal starting point for anyone who wants to know more about genes, DNA, and the genetic ties that bind us all.

Human Evolutionary Genetics
Human Evolutionary Genetics

Author: Mark Jobling

Publisher: Garland Science

Published: 2013-06-25

Total Pages: 1538

ISBN-13: 1317952251

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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

Human Genetics
Human Genetics

Author: Ricki Lewis

Publisher: McGraw-Hill Science, Engineering & Mathematics

Published: 2004-02

Total Pages: 439

ISBN-13: 9780072951745

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Human Genetics, 6/e is a non-science majors human genetics text that clearly explains what genes are, how they function, how they interact with the environment, and how our understanding of genetics has changed since completion of the human genome project. It is a clear, modern, and exciting book for citizens who will be responsible for evaluating new medical options, new foods, and new technologies in the age of genomics.

Genetics of Endocrine Diseases and Syndromes
Genetics of Endocrine Diseases and Syndromes

Author: Peter Igaz

Publisher: Springer Nature

Published: 2019-10-06

Total Pages: 476

ISBN-13: 3030259056

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This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

Analysis of Human Genetic Linkage
Analysis of Human Genetic Linkage

Author: Jurg Ott

Publisher: JHU Press

Published: 1999-04-16

Total Pages: 418

ISBN-13: 9780801861406

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Introduction and basic genetic principles; Genetic loci genetic polymorphisms; Aspects of statistical inference; Basics of linkage analysis; The informativeness of family data; Multipoint linkage analysis; Penetrance; Quantitative phenotypes; Numerical and computerized methods; Variability of the recombination fraction; Inconsistencies; Linkage analysis with mendelian disease loci; Nonparametric methods; Two-locus inheritance; Complex traits.

An Introduction to Statistical Genetic Data Analysis
An Introduction to Statistical Genetic Data Analysis

Author: Melinda C. Mills

Publisher: MIT Press

Published: 2020-02-18

Total Pages: 433

ISBN-13: 0262357445

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A comprehensive introduction to modern applied statistical genetic data analysis, accessible to those without a background in molecular biology or genetics. Human genetic research is now relevant beyond biology, epidemiology, and the medical sciences, with applications in such fields as psychology, psychiatry, statistics, demography, sociology, and economics. With advances in computing power, the availability of data, and new techniques, it is now possible to integrate large-scale molecular genetic information into research across a broad range of topics. This book offers the first comprehensive introduction to modern applied statistical genetic data analysis that covers theory, data preparation, and analysis of molecular genetic data, with hands-on computer exercises. It is accessible to students and researchers in any empirically oriented medical, biological, or social science discipline; a background in molecular biology or genetics is not required. The book first provides foundations for statistical genetic data analysis, including a survey of fundamental concepts, primers on statistics and human evolution, and an introduction to polygenic scores. It then covers the practicalities of working with genetic data, discussing such topics as analytical challenges and data management. Finally, the book presents applications and advanced topics, including polygenic score and gene-environment interaction applications, Mendelian Randomization and instrumental variables, and ethical issues. The software and data used in the book are freely available and can be found on the book's website.

Scientific Frontiers in Developmental Toxicology and Risk Assessment
Scientific Frontiers in Developmental Toxicology and Risk Assessment

Author: National Research Council

Publisher: National Academies Press

Published: 2000-12-21

Total Pages: 348

ISBN-13: 0309070864

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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.