May 11, 2021

Download Ebook Free Best Practices In Genetic And Genomic Research

Los Alamos Science

Los Alamos Science
Author : Anonim
Publisher : Unknown
Release Date : 1992
Category : Human gene mapping
Total pages :337
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Rigor and Reproducibility in Genetics and Genomics

Rigor and Reproducibility in Genetics and Genomics
Author : Anonim
Publisher : Academic Press
Release Date : 2021-07-01
Category : Medical
Total pages :472
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Rigor and Reproducibility in Genetics and Genomics: Peer-reviewed, Published, Cited provides a full methodological and statistical overview for researchers, clinicians, students, and post-doctoral fellows conducting genetic and genomic research. Here, active geneticists, clinicians, and bioinformaticists offer practical solutions for a variety of challenges associated with several modern approaches in genetics and genomics, including genotyping, gene expression analysis, epigenetic analysis, GWAS, EWAS, genomic sequencing, and gene editing. Emphasis is placed on rigor and reproducibility throughout, with each section containing laboratory case-studies and classroom activities covering step-by-step protocols, best practices, and common pitfalls. Specific genetic and genomic technologies discussed include microarray analysis, DNA-seq, RNA-seq, Chip-Seq, methyl-seq, CRISPR gene editing, and CRISPR-based genetic analysis. Training exercises, supporting data, and in-depth discussions of rigor, reproducibility, and ethics in research together deliver a solid foundation in research standards for the next generation of genetic and genomic scientists. Provides practical approaches and step-by-step protocols to strengthen genetic and genomic research conducted in the lab or classroom Through illustrative case studies and training exercises, discusses common pitfalls and solutions for genotyping, gene expression analysis, epigenetic analysis, GWAS, EWAS, genomic sequencing, and gene editing, among other genetic and genomic approaches Specifically examines best practices for microarray analysis, DNA-seq, RNA-seq, gene expression validation, Chip-Seq, methyl-seq, CRISPR gene editing, and CRISPR-based genetic analysis

Oxford Textbook of Neuropsychiatry

Oxford Textbook of Neuropsychiatry
Author : Niruj Agrawal,Rafey Faruqui,Mayur Bodani
Publisher : Oxford University Press, USA
Release Date : 2020-08-24
Category : Medical
Total pages :608
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New from Oxford Textbooks in Psychiatry, the Oxford Textbook of Neuropsychiatry bridges the gap between general psychiatric textbooks and reference texts in neuropsychiatry. Divided into four sections, it covers core knowledge and skills for practice in all psychiatric disciplines, with key information for training in neuropsychiatry.

Genomics

Genomics
Author : Julian Parkhill,Sarah J. Lindsay,Phil Jones,Lia Chappell,Jonathon Roberts,Nancy Holroyd,Michal Spzak,Francesca (Wellcome Sanger Institute) Gale
Publisher : Oxford University Press, USA
Release Date : 2020-04-15
Category :
Total pages :200
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This Oxford Biology Primer will introduce students to the field of genomics and its applications. From the early days of the Human Genome Project, sequencing technology has rapidly developed and is now cheaper and more accessible than ever before. The resulting pervasive nature of these technologies make them more likely to be experienced by people as patients, consumers and citizens. The primer introduces the basic principles of genomics and then uses these to consider human genetics, through examples of some of the rare diseases linked to single genes. The impact of these rare diseases is far-reaching and the knowledge gained through genome sequencing is proving invaluable in their diagnosis. Genome sequencing is revolutionising the diagnosis and treatment of cancer, and the primer introduces students to some of the key breakthroughs which have taken place in recent years. These include the identification of specific genes indicating cancer risk, and the sequencing of tumours throughout treatment to identify further mutations and modify treatment accordingly. The primer aims to address a number of the ethical issues which are raised by this rapidly-growing area of biology. Students are challenged to consider some of the decisions they may need to make relating to these technologies in their own lives, and are given opportunities to explore different aspects of these issues in a way which allows discussion to be both informed and meaningful. The study of infectious disease is also feeling the impact of genomics: the primer discusses the concept of pathogen genome sequencing, and illustrates the various ways in which this can be used - for example, enabling us to find different solutions to infections, to track outbreaks of disease to their source, and to identify and possibly ultimately combat antibiotic resistance. Many of the major diseases which impact the global population are caused by parasites, which come in a wide variety of shapes and sizes. The primer introduces students to the importance of understanding parasite genomes. Parasite genome sequencing makes it possible to develop both new medicines, and new treatments such as gene drive systems to wipe out disease-causing mosquito populations. For many years, our views of classification and evolution have been based on observational techniques going back to Darwin and Linnaeus. Focusing on human evolution, the primer will open students' eyes to the ways in which genome sequencing is being used to reveal evolutionary links that have never before been recognised, and to elucidate the way humans spread out of Africa across the world. Students are not always aware of the role technological developments play in enabling the progress of science. The final chapter delves into how genome sequencing technologies have developed, considering both the speed of change in the technology, its implications for usefulness, availability and cost, and the growing issue of big data and how it can be manipulated. The different technologies described in this chapter are referenced throughout the book.

Best Practice & Research

Best Practice & Research
Author : Anonim
Publisher : Unknown
Release Date : 2007
Category : Gynecology
Total pages :129
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Departments of Labor, Health and Human Services, Education, and Related Agencies Appropriations for 2013

Departments of Labor, Health and Human Services, Education, and Related Agencies Appropriations for 2013
Author : United States. Congress. House. Committee on Appropriations. Subcommittee on the Departments of Labor, Health and Human Services, Education, and Related Agencies
Publisher : Unknown
Release Date : 2012
Category : Administrative agencies
Total pages :129
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Direct-to-consumer Genetic Testing and the Consequences to the Public Health

Direct-to-consumer Genetic Testing and the Consequences to the Public Health
Author : United States. Congress. House. Committee on Energy and Commerce. Subcommittee on Oversight and Investigations
Publisher : Unknown
Release Date : 2013
Category : Direct-to-consumer medical device advertising
Total pages :227
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Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publisher : Academic Press
Release Date : 2021-02-27
Category : Medical
Total pages :436
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Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes

Genome Research

Genome Research
Author : Anonim
Publisher : Unknown
Release Date : 2008
Category : Genetics
Total pages :129
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Research EU.

Research EU.
Author : Anonim
Publisher : Unknown
Release Date : 2014-11
Category : Research
Total pages :129
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Nature Encyclopedia of the Human Genome

Nature Encyclopedia of the Human Genome
Author : David N. Cooper
Publisher : Natures Pub Limited
Release Date : 2003
Category : Human genetics
Total pages :1135
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Nature Encyclopedia of the Human Genome is the only reference resource devoted entirely to the scientific basis and genetics and genomics research and the complex commercial, philosophical, and ethical questions that arise from it. It presents a comprehensive and rigorously detailed overview of current genome science and its groundbreaking applications, examining the many topics that surround the field from the differing perspectives of history, philosophy, ethics, law, medicine, public health, and industry. Core areas covered include: structural genomics, functional genomics, chromosome structure and function, evolution and comparative genomics, genome mapping and sequencing, genes and disease, behavioural and psychiatric genetics, mathematical and population genetics, proteomics, bioinformatics, ethical, legal and social issues and biographies or key figures.

Clinical Ophthalmic Genetics and Genomics

Clinical Ophthalmic Genetics and Genomics
Author : Graeme Black,Jane Ashworth
Publisher : Academic Press
Release Date : 2021-09-01
Category : Medical
Total pages :544
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Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader

Annual Review of Genomics and Human Genetics

Annual Review of Genomics and Human Genetics
Author : Anonim
Publisher : Unknown
Release Date : 2009
Category : Gene mapping
Total pages :129
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Clinical Genome Sequencing

Clinical Genome Sequencing
Author : Aad Tibben,Barbara B. Biesecker
Publisher : Academic Press
Release Date : 2019-03-30
Category : Medical
Total pages :258
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Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Human Genetics and Genomics

Human Genetics and Genomics
Author : Bruce R. Korf,Mira B. Irons
Publisher : John Wiley & Sons
Release Date : 2012-11-19
Category : Medical
Total pages :280
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This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.