Human Gene Mutation

Human Gene Mutation
Author: David N. Cooper
Publisher: Taylor & Francis
Total Pages: 412
Release: 1995
Genre: Science
ISBN: 9781859960554

Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.

An Evidence Framework for Genetic Testing

An Evidence Framework for Genetic Testing
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
Total Pages: 149
Release: 2017-04-21
Genre: Medical
ISBN: 0309453291

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.

CRISPR-Cas Methods

CRISPR-Cas Methods
Author: M. Tofazzal Islam
Publisher: Humana
Total Pages: 397
Release: 2021-07-31
Genre: Science
ISBN: 9781071616567

This second volume provides new and updated methods detailing advancements in CRISPR-Cas technical protocols. Chapters guide readers through protocols on prime editing, base editing, multiplex editing, editing in cell-free extract, in silico analysis of gRNA secondary structure and CRISPR-diagnosis. Authoritative and cutting-edge, CRISPR-Cas Methods, Volume 2 aims to serves as a laboratory manual providing scientists with a holistic view of CRISPR-Cas methodologies and its practical application for the editing of crop plants, cell lines, nematode and microorganism. The chapter “CRISPR/Cas9-mediated gene editing in human induced pluripotent stem cells” is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Cancer Genomics

Cancer Genomics
Author: Hui Ling
Publisher: Elsevier Inc. Chapters
Total Pages: 36
Release: 2013-11-21
Genre: Medical
ISBN: 0128061227

The discovery of microRNA (miRNA) involvement in cancer a decade ago, and the more recent findings of long non-coding RNAs in human diseases, challenged the long-standing view that RNAs without protein-coding potential are simply “junk” transcription within the human genome. These findings evidently changed the dogma that “DNA makes RNA makes protein” by showing that RNAs themselves can be essential regulators of cellular function and play key roles in cancer development. MiRNAs are evolutionarily conserved short single-stranded transcripts of 19–24 nucleotides in length. They do not code for proteins, but change the final output of protein-coding genes by regulating their transcriptional and/or translation process. Ultraconserved genes (UCGs) are non-coding RNAs with longer length (>200bp) that are transcribed from the ultraconserved genomic region. Both miRNAs and UCGs are located within cancer-associated genomic regions (CAGRs) and can act as tumor suppressors or oncogenes. In this chapter, we present principles and concepts that have been identified over the last decade with respect to our understanding of the function of non-coding RNAs, and summarize recent findings on the role of miRNAs and UCGs in cancer development. Finally, we will conclude by discussing the translational potential of this knowledge into clinical settings such as cancer diagnosis, prognosis and treatment.

Handbook of Statistical Genomics

Handbook of Statistical Genomics
Author: David J. Balding
Publisher: John Wiley & Sons
Total Pages: 1740
Release: 2019-07-09
Genre: Science
ISBN: 1119429250

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.

Mapping and Sequencing the Human Genome

Mapping and Sequencing the Human Genome
Author: National Research Council
Publisher: National Academies Press
Total Pages: 128
Release: 1988-01-01
Genre: Science
ISBN: 0309038405

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.

Concepts of Epidemiology

Concepts of Epidemiology
Author: Raj S. Bhopal
Publisher: Oxford University Press
Total Pages: 481
Release: 2016
Genre: Medical
ISBN: 0198739680

First edition published in 2002. Second edition published in 2008.

Practical Guide to Life Science Databases

Practical Guide to Life Science Databases
Author: Imad Abugessaisa
Publisher: Springer Nature
Total Pages: 228
Release: 2022-01-06
Genre: Science
ISBN: 9811658129

This book provides the latest information of life science databases that center in the life science research and drive the development of the field. It introduces the fundamental principles, rationales and methodologies of creating and updating life science databases. The book brings together expertise and renowned researchers in the field of life science databases and brings their experience and tools at the fingertips of the researcher. The book takes bottom-up approach to explain the structure, content and the usability of life science database. Detailed explanation of the content, structure, query and data retrieval are discussed to provide practical use of life science database and to enable the reader to use database and provided tools in practice. The readers will learn the necessary knowledge about the untapped opportunities available in life science databases and how it could be used so as to advance basic research and applied research findings and transforming them to the benefit of human life. Chapter 2 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Biosocial Surveys

Biosocial Surveys
Author: National Research Council
Publisher: National Academies Press
Total Pages: 429
Release: 2008-01-06
Genre: Social Science
ISBN: 0309108675

Biosocial Surveys analyzes the latest research on the increasing number of multipurpose household surveys that collect biological data along with the more familiar interviewerâ€"respondent information. This book serves as a follow-up to the 2003 volume, Cells and Surveys: Should Biological Measures Be Included in Social Science Research? and asks these questions: What have the social sciences, especially demography, learned from those efforts and the greater interdisciplinary communication that has resulted from them? Which biological or genetic information has proven most useful to researchers? How can better models be developed to help integrate biological and social science information in ways that can broaden scientific understanding? This volume contains a collection of 17 papers by distinguished experts in demography, biology, economics, epidemiology, and survey methodology. It is an invaluable sourcebook for social and behavioral science researchers who are working with biosocial data.

Long-Range Control of Gene Expression

Long-Range Control of Gene Expression
Author: Veronica van Heyningen
Publisher: Academic Press
Total Pages: 415
Release: 2011-09-02
Genre: Science
ISBN: 0080877818

Long-Range Control of Gene Expression covers the current progress in understanding the mechanisms for genomic control of gene expression, which has grown considerably in the last few years as insight into genome organization and chromatin regulation has advanced. Discusses the evolution of cis-regulatory sequences in drosophila Includes information on genomic imprinting and imprinting defects in humans Includes a chapter on epigenetic gene regulation in cancer