Clinical Genomics, Second Edition

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Publisher : Academic Press
ISBN 13 : 0323915639
Total Pages : 0 pages
Book Rating : 4.3/5 (239 download)

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Book Synopsis Clinical Genomics, Second Edition by : Shashikant Kulkarni

Download or read book Clinical Genomics, Second Edition written by Shashikant Kulkarni and published by Academic Press. This book was released on 2023-03-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Genomics, Second Edition provides a full overview of next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. The book presents key bioinformatic challenges and solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. It focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting, with later sections devoted to emerging regulatory issues governing the clinical use of NGS and reimbursement paradigms that will affect the way in which laboratory professionals get compensated for testing. Following the wide use of the current edition by clinicians and researchers alike, this fully revised, new edition addresses the evolving landscape of genomics medicine, along with recent advances in our understanding of molecular mechanisms of human diseases and developmental biology. In addition, the book updates on sequencing chemistry and platforms, bioinformatics algorithms, clinical informatics, IT infrastructure and emerging applications of artificial intelligence in genomics. Simplifies the complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists Instructs in tested practice-based analysis for precision diagnosis and treatment plans, as well as pipelines and meta-analysis for a full range of clinically important variants Provides technical consideration for the validation and implementation of bioinformatics pipelines and related resources in the clinical molecular laboratory Addresses novel sequencing technologies, including long-read sequencing for detecting structural variants and haplotypes Covers cloud computing and Modern IT infrastructure (data storage, security, analytics) for scalable and secure genomics medicine

Clinical Genomics

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Publisher : Academic Press
ISBN 13 : 0124051731
Total Pages : 489 pages
Book Rating : 4.1/5 (24 download)

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Book Synopsis Clinical Genomics by : Shashikant Kulkarni

Download or read book Clinical Genomics written by Shashikant Kulkarni and published by Academic Press. This book was released on 2014-11-10 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Oxford Desk Reference

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Publisher : Oxford University Press, USA
ISBN 13 : 9780192628961
Total Pages : 708 pages
Book Rating : 4.6/5 (289 download)

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Book Synopsis Oxford Desk Reference by : Helen V. Firth

Download or read book Oxford Desk Reference written by Helen V. Firth and published by Oxford University Press, USA. This book was released on 2005 with total page 708 pages. Available in PDF, EPUB and Kindle. Book excerpt: Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

Genomic Medicine

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Publisher : Oxford Monographs on Medical G
ISBN 13 : 019989602X
Total Pages : 853 pages
Book Rating : 4.1/5 (998 download)

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Book Synopsis Genomic Medicine by : Dhavendra Kumar

Download or read book Genomic Medicine written by Dhavendra Kumar and published by Oxford Monographs on Medical G. This book was released on 2014-10-15 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Genomics and Clinical Medicine

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Publisher : Oxford University Press
ISBN 13 : 9780199720057
Total Pages : 672 pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis Genomics and Clinical Medicine by : Dhavendra Kumar

Download or read book Genomics and Clinical Medicine written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2008-02-15 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition

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Publisher : Springer Publishing Company
ISBN 13 : 0826129137
Total Pages : 425 pages
Book Rating : 4.8/5 (261 download)

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Book Synopsis Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition by : Christine E. Kasper, PhD, RN, FAAN, FACSM

Download or read book Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition written by Christine E. Kasper, PhD, RN, FAAN, FACSM and published by Springer Publishing Company. This book was released on 2015-09-16 with total page 425 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely updated to help nurses learn to ìthink geneticallyî Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a lifespan approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on healthcare, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the lifespan, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patientís genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructorís package of PowerPoint slides and a test bank are provided for use at both the graduate and undergraduate levels. New to the Second Edition: Completely updated with several new chapters Personal drug therapy based on genomics Environmental susceptibilities Prenatal detection and diagnosis Newborn and genetic screening Reproductive technologies Ethical issues Genetic therapies Epigenetics Content for graduate-level programs PowerPoint slides and a test bank for all student levels Key Features: Encompasses state-of-the-art genomics from a nursing perspective Provides a practical, clinically oriented lifespan approach Covers science, technology, and clinical application of genomics Addresses prevention, genetic testing, and treatment methods Written for undergraduate- and graduate-level nursing students

Public Health Genomics

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Publisher : John Wiley & Sons
ISBN 13 : 0470454415
Total Pages : 431 pages
Book Rating : 4.4/5 (74 download)

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Book Synopsis Public Health Genomics by : Claudia N. Mikail

Download or read book Public Health Genomics written by Claudia N. Mikail and published by John Wiley & Sons. This book was released on 2008-11-03 with total page 431 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Centers for Disease Control (CDC) has recognized genomics as a priority area in public health education. To help public health students and professionals achieve proficiency in the language of genetics and attain genomics competencies delineated by the CDC, this book offers an introduction to basic molecular genetics and discusses the relevance of genomics to such key public health issues as environmental health, ethnic health disparities, health policy and law, research ethics, maternal and child health, clinical preventive medicine, health behavior, health economics, and communicable disease control. Presented in a context that is easy to understand, the book serves as an accessible portal of entry into the world of public health genomics.

Genetics and Genomics in Medicine

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Publisher : Taylor & Francis
ISBN 13 : 1317594304
Total Pages : 545 pages
Book Rating : 4.3/5 (175 download)

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Book Synopsis Genetics and Genomics in Medicine by : Tom Strachan

Download or read book Genetics and Genomics in Medicine written by Tom Strachan and published by Taylor & Francis. This book was released on 2014-06-02 with total page 545 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti

Genetics and Genomics in Nursing and Health Care

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Publisher : F.A. Davis
ISBN 13 : 0803660960
Total Pages : 456 pages
Book Rating : 4.8/5 (36 download)

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Book Synopsis Genetics and Genomics in Nursing and Health Care by : Theresa A Beery

Download or read book Genetics and Genomics in Nursing and Health Care written by Theresa A Beery and published by F.A. Davis. This book was released on 2018-01-08 with total page 456 pages. Available in PDF, EPUB and Kindle. Book excerpt: Complex concepts made manageable! Build the foundation you need to understand the science of genetics and its growing role in the diagnosis and treatment of diseases and disorders. Confidently tackle the basics of genetic inheritance, the influence of somatic and germline mutations, the multifactorial relationship of gene-environment interactions, and the foundation of ethical behavior. Everyday language makes these often-intimidating topics easy to understand, while clearly defined principles, logical explanations, illustrations, tables, and clinical examples ensure you master the material.

Clinical Ophthalmic Genetics and Genomics

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Publisher : Elsevier
ISBN 13 : 0128139447
Total Pages : 490 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Clinical Ophthalmic Genetics and Genomics by : Graeme C.M. Black

Download or read book Clinical Ophthalmic Genetics and Genomics written by Graeme C.M. Black and published by Elsevier. This book was released on 2022-01-20 with total page 490 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Clinical Applications for Next-Generation Sequencing

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Publisher : Academic Press
ISBN 13 : 0128018410
Total Pages : 334 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Clinical Applications for Next-Generation Sequencing by : Urszula Demkow

Download or read book Clinical Applications for Next-Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-10 with total page 334 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. Fills the gap between state-of-the-art technology and evidence-based practice Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies

Genomic and Personalized Medicine

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Publisher : Academic Press
ISBN 13 : 0123822289
Total Pages : 1350 pages
Book Rating : 4.1/5 (238 download)

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Book Synopsis Genomic and Personalized Medicine by :

Download or read book Genomic and Personalized Medicine written by and published by Academic Press. This book was released on 2012-10-30 with total page 1350 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic and Personalized Medicine, Second Edition — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis

Clinical Genomics: Practical Applications for Adult Patient Care

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Publisher : McGraw Hill Professional
ISBN 13 : 0071622446
Total Pages : 960 pages
Book Rating : 4.0/5 (716 download)

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Book Synopsis Clinical Genomics: Practical Applications for Adult Patient Care by : Michael F. Murray (Physician)

Download or read book Clinical Genomics: Practical Applications for Adult Patient Care written by Michael F. Murray (Physician) and published by McGraw Hill Professional. This book was released on 2014 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.

Essentials of Medical Genomics

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Publisher : John Wiley & Sons
ISBN 13 : 0470334495
Total Pages : 466 pages
Book Rating : 4.4/5 (73 download)

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Book Synopsis Essentials of Medical Genomics by : Stuart M. Brown

Download or read book Essentials of Medical Genomics written by Stuart M. Brown and published by John Wiley & Sons. This book was released on 2008-12-29 with total page 466 pages. Available in PDF, EPUB and Kindle. Book excerpt: Six new chapters on vital topics of interest such as multilocus SNP genotyping (SNP chips), RNAi, ChIP-chip, and genomic tiling arrays New edition responds to reviewers' and users' desire for greater coverage—now the most useful handbook on the market! Practical, concise summary of everything about genomics and emerging technologies a busy physician or medical student should know Covers concepts and techniques that are in use in medicine now, as well as those on the cutting-edge of science relevant to medicine, from bioinformatics to DNA diagnostics and proteomics NEW: Includes chapter-end exercises, enhancing the utility of the new edition as a textbook NEW: PowerPoint slides of images available at instructor website

Clinical DNA Variant Interpretation

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Publisher : Academic Press
ISBN 13 : 0128205202
Total Pages : 436 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Clinical DNA Variant Interpretation by : Conxi Lázaro

Download or read book Clinical DNA Variant Interpretation written by Conxi Lázaro and published by Academic Press. This book was released on 2021-02-27 with total page 436 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Clinical and Translational Science

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Publisher : Academic Press
ISBN 13 : 012802111X
Total Pages : 812 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Clinical and Translational Science by : David Robertson

Download or read book Clinical and Translational Science written by David Robertson and published by Academic Press. This book was released on 2016-11-25 with total page 812 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical and Translational Science: Principles of Human Research, Second Edition, is the most authoritative and timely resource for the broad range of investigators taking on the challenge of clinical and translational science, a field that is devoted to investigating human health and disease, interventions, and outcomes for the purposes of developing new treatment approaches, devices, and modalities to improve health. This updated second edition has been prepared with an international perspective, beginning with fundamental principles, experimental design, epidemiology, traditional and new biostatistical approaches, and investigative tools. It presents complete instruction and guidance from fundamental principles, approaches, and infrastructure, especially for human genetics and genomics, human pharmacology, research in special populations, the societal context of human research, and the future of human research. The book moves on to discuss legal, social, and ethical issues, and concludes with a discussion of future prospects, providing readers with a comprehensive view of this rapidly developing area of science. Introduces novel physiological and therapeutic strategies for engaging the fastest growing scientific field in both the private sector and academic medicine Brings insights from international leaders into the discipline of clinical and translational science Addresses drug discovery, drug repurposing and development, innovative and improved approaches to go/no-go decisions in drug development, and traditional and innovative clinical trial designs

Medical Genetics

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Publisher :
ISBN 13 :
Total Pages : 392 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Medical Genetics by : Lynn B. Jorde

Download or read book Medical Genetics written by Lynn B. Jorde and published by . This book was released on 2006 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'Medical Genetics' offers up-to-date information on modern genetics. This comprehensive study includes the latest findings from genetic research and how that knowledge can be used in clinical practice.