Thompson & Thompson. GENETICS IN MEDICINE. Seventh Edition. Robert L. Nussbaum, MD. Holly Smith Distinguished Professor in Science and Medicine. Thompson & Thompson Genetics in Medicine (Thompson and Thompson Genetics in Medicine): A Guide to Genetic Counseling, Second Edition. Wendy R. Editorial Reviews. Review. "This eighth edition is masterfully written by Nussbaum, McInnes, and Willard. Widely known as Thompson and Thompson, this is an.
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V. Title: Thompson and Thompson genetics in medicine. [DNLM: 1. Genetics, Medical. QZ 50] RB ′—dc23 Content Strategist: Meghan. Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and. Through six editions, Thompson & Thompson's Genetics in Medicine has been a well-established favorite textbook on this fascinating and rapidly evolving field.
Abstract With the decrease in sequencing cost and the rise of companies providing sequencing services, it is likely that personalized whole-genome sequencing will eventually become an instrument of common medical practice.
Thompson & Thompson genetics in medicine
We write this series of three reviews to help non-geneticist clinicians get ready for the major breakthroughs that are likely to occur in the coming years in the fast-moving field of personalized medicine.
This first paper focuses on the fundamental concepts of molecular genetics.
We review how recombination occurs during meiosis, how de novo genetic variations including single nucleotide polymorphisms SNPs , insertions and deletions are generated and how they are inherited from one generation to the next. We detail how genetic variants can impact protein expression and function, and summarize the main characteristics of the human genome.
We also explain how the achievements of the Human Genome Project, the HapMap Project, and more recently, the Genomes Project, have boosted the identification of genetic variants contributing to common diseases in human populations.
The second and third papers will focus on genetic epidemiology and clinical applications in personalized medicine. Keywords: Chromosome, deoxyribonucleic acid, genetic variants, haplotype, human genome, linkage disequilibrium. Non-genetic clinicians are familiar with single-gene disorders for the simple reason that the medical training, including human genetic courses, mainly refers to Mendelian diseases. An example of single-gene disorder is Huntington disease which is caused by a single mutation in the HD gene and that follows the easily recognized pattern of autosomal dominant inheritance across generations [ 1 ].
Some clinicians are, however, less comfortable with the principles of genetic contributions to complex disorders, despite the fact that a majority of human diseases e. Complex diseases are triggered by multiple genetic variants in multiple genes acting in combination with environmental factors, and they typically do not follow any Mendelian patterns of inheritance. This limited knowledge in the medical community is understandable as genetic determinants for complex diseases were uncovered in the last 15 years and new discoveries are ongoing.
Two important breakthroughs have revolutionized the search for genetic variants contributing to complex diseases and have boosted the elucidation of complex traits in the last seven years. First, the commercialization of high throughput genotyping microarrays has led to the emergence of genome-wide association studies GWAS and to an unparalleled harvest of disease-associated loci [ 2 , 3 ].
Since the first report of GWAS in , more than loci have been conclusively associated with one or more complex traits [ 4 , 5 ]. However, most genetic variants from GWAS can only be correlated with a disease and the underlying mechanism may not be known. Over the past three years, the advent of high-throughput next generation sequencing platforms has led to the availability of whole-exome sequencing experiments which specifically sequence the subset of the human genome that code proteins, and to tremendous progress in the elucidation of Mendelian and complex disorders [ 6 , 7 ].
With the decrease in sequencing cost and growing patient willingness to participate [ 8 ], personalized whole-genome sequencing may eventually become an instrument of common medical practice [ 9 , 10 ]. These new perspectives challenge the clinicians to jump into the fast-moving field of personalized medicine, an emerging practice that uses an individual's genetic profile to guide decision-making in regard to the prevention, diagnosis, and treatment of diseases [ 11 ].
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Thompson & Thompson Genetics in Medicine
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Read more. Product details Series: Thompson and Thompson Genetics in Medicine Paperback: Elsevier; 8 edition June 4, Language: English ISBN Try the site edition and experience these great reading features: Share your thoughts with other customers. Write a customer review. Top Reviews Most recent Top Reviews.
There was a problem filtering reviews right now. Please try again later. Paperback Verified download. Useful daily reference book for many clinical geneticist. site Edition Verified download. I didn't receive the book.
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One person found this helpful. Informative but very difficult to sit and read for very long. It puts me to sleep after reading a couple of pages.
Great book for insomnia as it is written in chloroform. However, not a good choice if you are aiming to read, understand, and retain the information. I would not recommend it. Very very new book. Booked came fast and everything was perfect. Great condition super satisfied with product.
I had to download this text for school, but it helps bring genetics to life. A must have book! See all 21 reviews.
site Giveaway allows you to run promotional giveaways in order to create buzz, reward your audience, and attract new followers and customers.User-contributed reviews Add a review and share your thoughts with other readers. Every cell in the human body has a complete set of DNA called a genome with the exception of mature red blood cells erythrocytes , which lack a nucleus and most organelles.
Peter D Turnpenny BSc. Normally imprinting results in the inactivation of the Igf2 allele the offspring inherits from the mother. Page Count: Linked Data More info about Linked Data. Abstract With the decrease in sequencing cost and the rise of companies providing sequencing services, it is likely that personalized whole-genome sequencing will eventually become an instrument of common medical practice.