Medical Genetics

Medical Genetics PDF

Author: G. Bradley Schaefer

Publisher: McGraw Hill Professional

Published: 2013-11-22

Total Pages: 452

ISBN-13: 0071819282

DOWNLOAD EBOOK →

A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Primer of Genetic Analysis

Primer of Genetic Analysis PDF

Author: James N. Thompson, Jr

Publisher: Cambridge University Press

Published: 2007-10-01

Total Pages: 488

ISBN-13: 1139465643

DOWNLOAD EBOOK →

An invaluable student-tested study aid, this primer, first published in 2007, provides guided instruction for the analysis and interpretation of genetic principles and practice in problem solving. Each section is introduced with a summary of useful hints for problem solving and an overview of the topic with key terms. A series of problems, generally progressing from simple to more complex, then allows students to test their understanding of the material. Each question and answer is accompanied by detailed explanation. This third edition includes additional problems in basic areas that often challenge students, extended coverage in molecular biology and development, an expanded glossary of terms, and updated historical landmarks. Students at all levels, from beginning biologists and premedical students to graduates seeking a review of basic genetics, will find this book a valuable aid. It will complement the formal presentation in any genetics textbook or stand alone as a self-paced review manual.

Mathematical and Statistical Methods for Genetic Analysis

Mathematical and Statistical Methods for Genetic Analysis PDF

Author: Kenneth Lange

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 376

ISBN-13: 0387217509

DOWNLOAD EBOOK →

Written to equip students in the mathematical siences to understand and model the epidemiological and experimental data encountered in genetics research. This second edition expands the original edition by over 100 pages and includes new material. Sprinkled throughout the chapters are many new problems.

Human Genetics

Human Genetics PDF

Author: Edwin H. McConkey

Publisher: Jones & Bartlett Learning

Published: 1993

Total Pages: 348

ISBN-13: 9780867208542

DOWNLOAD EBOOK →

Begins with molecular characterization of the human genome (rather than the conventional descriptions of Mendelian inheritance, pedigree analysis, and chromosome abnormalities), and maintains this emphasis on understanding human genetics in molecular terms throughout. Suitable as a text for biology

Statistical Human Genetics

Statistical Human Genetics PDF

Author: Robert C. Elston

Publisher: Humana Press

Published: 2012-02-04

Total Pages: 564

ISBN-13: 9781617795541

DOWNLOAD EBOOK →

Recent advances in genetics over the last quarter of a century, especially in molecular techniques, have dramatically reduced the cost of determining genetic markers and hence opened up a field of research that is increasingly helping to detect, prevent and/or cure many diseases that afflict humans. In Statistical Human Genetics: Methods and Protocols expert researchers in the field describe statistical methods and computer programs in the detail necessary to make them more easily accessible to the beginner analyzing data. Written in the highly successful Methods in Molecular BiologyTM series format, with examples of running the programs and interpreting the program outputs, the chapters include the kind of detailed description and implementation advice that is crucial for getting optimal results from human genetic data collected in the laboratory. Thorough and as much as possible intuitive, Statistical Human Genetics: Methods and Protocols aids scientists in understanding the computer programs and analytical procedures they need to use.

Assessing Genetic Risks

Assessing Genetic Risks PDF

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1994-01-01

Total Pages: 353

ISBN-13: 0309047986

DOWNLOAD EBOOK →

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Handbook of Statistical Genomics

Handbook of Statistical Genomics PDF

Author: David J. Balding

Publisher: John Wiley & Sons

Published: 2019-07-09

Total Pages: 1828

ISBN-13: 1119429250

DOWNLOAD EBOOK →

A timely update of a highly popular handbook on statistical genomics This new, two-volume edition of a classic text provides a thorough introduction to statistical genomics, a vital resource for advanced graduate students, early-career researchers and new entrants to the field. It introduces new and updated information on developments that have occurred since the 3rd edition. Widely regarded as the reference work in the field, it features new chapters focusing on statistical aspects of data generated by new sequencing technologies, including sequence-based functional assays. It expands on previous coverage of the many processes between genotype and phenotype, including gene expression and epigenetics, as well as metabolomics. It also examines population genetics and evolutionary models and inference, with new chapters on the multi-species coalescent, admixture and ancient DNA, as well as genetic association studies including causal analyses and variant interpretation. The Handbook of Statistical Genomics focuses on explaining the main ideas, analysis methods and algorithms, citing key recent and historic literature for further details and references. It also includes a glossary of terms, acronyms and abbreviations, and features extensive cross-referencing between chapters, tying the different areas together. With heavy use of up-to-date examples and references to web-based resources, this continues to be a must-have reference in a vital area of research. Provides much-needed, timely coverage of new developments in this expanding area of study Numerous, brand new chapters, for example covering bacterial genomics, microbiome and metagenomics Detailed coverage of application areas, with chapters on plant breeding, conservation and forensic genetics Extensive coverage of human genetic epidemiology, including ethical aspects Edited by one of the leading experts in the field along with rising stars as his co-editors Chapter authors are world-renowned experts in the field, and newly emerging leaders. The Handbook of Statistical Genomics is an excellent introductory text for advanced graduate students and early-career researchers involved in statistical genetics.