Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.
Download or read book Tempo and Mode in Evolution written by for the National Academy of Sciences and published by National Academies Press. This book was released on 1995-02-09 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since George Gaylord Simpson published Tempo and Mode in Evolution in 1944, discoveries in paleontology and genetics have abounded. This volume brings together the findings and insights of today's leading experts in the study of evolution, including Ayala, W. Ford Doolittle, and Stephen Jay Gould. The volume examines early cellular evolution, explores changes in the tempo of evolution between the Precambrian and Phanerozoic periods, and reconstructs the Cambrian evolutionary burst. Long-neglected despite Darwin's interest in it, species extinction is discussed in detail. Although the absence of data kept Simpson from exploring human evolution in his book, the current volume covers morphological and genetic changes in human populations, contradicting the popular claim that all modern humans descend from a single woman. This book discusses the role of molecular clocks, the results of evolution in 12 populations of Escherichia coli propagated for 10,000 generations, a physical map of Drosophila chromosomes, and evidence for "hitchhiking" by mutations.
Download or read book DNA Sequence Variation written by Cassandra Smith and published by . This book was released on 1999 with total page 101 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Basic Science Methods for Clinical Researchers written by Morteza Jalali and published by Academic Press. This book was released on 2017-03-31 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: Basic Science Methods for Clinical Researchers addresses the specific challenges faced by clinicians without a conventional science background. The aim of the book is to introduce the reader to core experimental methods commonly used to answer questions in basic science research and to outline their relative strengths and limitations in generating conclusive data. This book will be a vital companion for clinicians undertaking laboratory-based science. It will support clinicians in the pursuit of their academic interests and in making an original contribution to their chosen field. In doing so, it will facilitate the development of tomorrow’s clinician scientists and future leaders in discovery science. Serves as a helpful guide for clinical researchers who lack a conventional science background Organized around research themes pertaining to key biological molecules, from genes, to proteins, cells, and model organisms Features protocols, techniques for troubleshooting common problems, and an explanation of the advantages and limitations of a technique in generating conclusive data Appendices provide resources for practical research methodology, including legal frameworks for using stem cells and animals in the laboratory, ethical considerations, and good laboratory practice (GLP)
Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Download or read book DNA Sequence Variation in Normal Pigmentation written by Premila Rozanne John and published by . This book was released on 1999 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Evaluating Human Genetic Diversity written by National Research Council and published by National Academies Press. This book was released on 1998-01-19 with total page 101 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book assesses the scientific value and merit of research on human genetic differencesâ€"including a collection of DNA samples that represents the whole of human genetic diversityâ€"and the ethical, organizational, and policy issues surrounding such research. Evaluating Human Genetic Diversity discusses the potential uses of such collection, such as providing insight into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.
Download or read book Biological Sequence Analysis written by Richard Durbin and published by Cambridge University Press. This book was released on 1998-04-23 with total page 372 pages. Available in PDF, EPUB and Kindle. Book excerpt: Probabilistic models are becoming increasingly important in analysing the huge amount of data being produced by large-scale DNA-sequencing efforts such as the Human Genome Project. For example, hidden Markov models are used for analysing biological sequences, linguistic-grammar-based probabilistic models for identifying RNA secondary structure, and probabilistic evolutionary models for inferring phylogenies of sequences from different organisms. This book gives a unified, up-to-date and self-contained account, with a Bayesian slant, of such methods, and more generally to probabilistic methods of sequence analysis. Written by an interdisciplinary team of authors, it aims to be accessible to molecular biologists, computer scientists, and mathematicians with no formal knowledge of the other fields, and at the same time present the state-of-the-art in this new and highly important field.
Download or read book Genetic Variation written by Michael R. Barnes and published by Humana Press. This book was released on 2014-10-20 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: “Your genome is an email attachment” What a difference a few years can make? In 2001, to a global fanfare, the completion of the frst draft sequence of the human genome was announced. This had been a Herculean effort, involving thousands of researchers and millions of dollars. Today, a project to re-sequence 1,000 genomes is well underway, and within a year or two, your own “personal genome” is likely to be available for a few thousand pounds, a price that will undoubtedly decrease further. We are fast approaching the day when your genome will be available as an email attachment (about 4 Mb). The key to this feat is the fact that any two human genomes are more than 99% identical, so rather than representing every base, there is really only a requirement to store the 1% of variable sequence judged against a common reference genome. This brings us directly to the focus of this edition of Methods in Molecular Biology, Genetic Variation. The human genome was once the focus of biology, but now individual genome var- tion is taking the center stage. This new focus on individual variation ultimately democ- tizes biology, offering individuals insight into their own phenotype. But these advances also raise huge concerns of data misuse, misinterpretation, and misunderstanding. The immediacy of individual genomes also serves to highlight our relative ignorance of human genetic variation, underlining the need for more studies of the nature and impact of genetic variation on human phenotypes.
Download or read book Human Genome Structure Function and Clinical Considerations written by Luciana Amaral Haddad and published by Springer Nature. This book was released on 2021-06-07 with total page 367 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a detailed evidence-based overview of the latest developments in how the structure of the human genome is relevant to the health professional. It features comprehensive reviews of genome science including human chromosomal and mitochondrial DNA structure, protein-coding and noncoding genes, and the diverse classes of repeat elements of the human genome. These concepts are then built upon to provide context as to how they functionally relate to differences in phenotypic traits that can be observed in human populations. Guidance is also provided on how this information can be applied by the medical practitioner in day-to-day clinical practice. Human Genome Structure, Function and Clinical Considerations collates the latest developments in genome science and current methods for genome analysis that are relevant for the clinician, researcher and scientist who utilises precision medicine techniques and is an essential resource for any such practitioner.
Download or read book Effects of Genome Structure and Sequence on the Generation of Variation and Evolution Volume 1267 written by Lynn H. Caporale and published by Wiley-Blackwell. This book was released on 2012-10-09 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The structure of DNA varies along its sequence, which can lead to sequence-dependent variations in the fidelity of DNA copying and repair. And because the probability of distinct classes of mutations varies along a DNA sequence, variation that affects fitness will have evolutionary implications, as selection acts on heritable variation. This Annals volume brings together a broad interdisciplinary group of researchers to explore the impact of increasing understanding of DNA structure, repair, replication, and organization on interrelated subjects ranging from evolution, to dependence of the effect of mutagens on environmental and sequence context, to noncanonical forms of information representation in genomes. NOTE: Annals volumes are avaialble for sale as individual books or as a journal. For information on institutional journal subscriptions, please visit http://ordering.onlinelibrary.wiley.com/subs.asp?ref=1749-6632&doi=10.111/(ISSN)1749-6632 ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to Annals online and discounts on print volumes. Please visit http://www.nyas.org/MemberCenter/Joun.aspx for more information about becoming a member.
Download or read book Repetitive DNA Sequences written by Andrew G. Clark and published by MDPI. This book was released on 2020-03-05 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt: Repetitive DNA is ubiquitous in eukaryotic genomes, and, in many species, comprises the bulk of the genome. Repeats include transposable elements that can self-mobilize and disperse around the genome, and tandemly-repeated satellite DNAs that increase in copy number due to replication slippage and unequal crossing over. Despite their abundance, repetitive DNA is often ignored in genomic studies due to technical challenges in their identification, assembly, and quantification. New technologies and methods are now providing the unprecedented power to analyze repetitive DNAs across diverse taxa. Repetitive DNA is of particular interest because it can represent distinct modes of genome evolution. Some repetitive DNA forms essential genome structures, such as telomeres and centromeres, which are required for proper chromosome maintenance and segregation, whereas others form piRNA clusters that regulate transposable elements; thus, these elements are expected to evolve under purifying selection. In contrast, other repeats evolve selfishly and produce genetic conflicts with their host species that drive adaptive evolution of host defense systems. However, the majority of repeats likely accumulate in eukaryotes in the absence of selection due to mechanisms of transposition and unequal crossing over. Even these neutral repeats may indirectly influence genome evolution as they reach high abundance. In this Special Issue, the contributing authors explore these questions from a range of perspectives.
Download or read book Bioinformatics for Everyone written by Mohammad Yaseen Sofi and published by Academic Press. This book was released on 2021-09-14 with total page 268 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bioinformatics for Everyone provides a brief overview on currently used technologies in the field of bioinformatics—interpreted as the application of information science to biology— including various online and offline bioinformatics tools and softwares. The book presents valuable knowledge in a simplified way to help students and researchers easily apply bioinformatics tools and approaches to their research and lab routines. Several protocols and case studies that can be reproduced by readers to suit their needs are also included. Explains the most relevant bioinformatics tools available in a didactic manner so that readers can easily apply them to their research Includes several protocols that can be used in different types of research work or in lab routines Discusses upcoming technologies and their impact on biological/biomedical sciences
Download or read book Development and Applications of an in Vivo Method for DNA Sequence Variation Detection written by Malek Faham and published by . This book was released on 1995 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book DNA Sequence Variation Within and Around Human Minisatellites written by Darren G. Monckton and published by . This book was released on 1992 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Mapping and Sequencing the Human Genome written by National Research Council and published by National Academies Press. This book was released on 1988-01-01 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Study of DNA Sequence Variation in the Human X Chromosome written by and published by . This book was released on 2003 with total page 420 pages. Available in PDF, EPUB and Kindle. Book excerpt:
