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Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation Book
Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publisher : Academic Press
Release : 2021-02-27
ISBN : 0128205202
Language : En, Es, Fr & De

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Book Description :

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 DNA Variant Interpretation

Clinical DNA Variant Interpretation Book
Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle,George P. Patrinos
Publisher : Elsevier
Release : 2021-03-15
ISBN : 0128205199
Language : En, Es, Fr & De

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Book Description :

We live in a very exciting time in the field of human genetics; NGS technology is generating enormous amounts of data for classifying genetic variants. However, defining the role of these variants in human health and disease can be difficult, especially when a variant's mechanism of action or the phenotype associated with a genetic mutation are not well defined. Work in multidisciplinary teams and development of multifactorial algorithms, including artificial intelligence and machine learning approaches, are integral to streamlining variant classification. Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, brings more than thirty international experts together to compile variant interpretation best practices and approaches in a single volume, covering 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 and somatic profiling; CNV interpretation; quantitative modeling; machine learning approaches; genomic data sharing; genetic testing in clinical practice; and holistic case-level interpretation. Biomedical specialties of relevance include internal medicine, medical genetics, oncology, psychiatry, neurology, and immunology, and those driving implementation of precision medicine and personalized treatments.

Clinical Genomics

Clinical Genomics Book
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release : 2014-11-10
ISBN : 0124051731
Language : En, Es, Fr & De

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Book Description :

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

Hereditary Colorectal Cancer

Hereditary Colorectal Cancer Book
Author : Laura Valle,Stephen B. Gruber,Gabriel Capellá
Publisher : Springer
Release : 2018-05-04
ISBN : 3319742590
Language : En, Es, Fr & De

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Book Description :

This book provides information on a wide variety of issues ranging from genetics to clinical description of the syndromes, genetic testing and counseling, and clinical management including surveillance, surgical and prophylactic interventions, and chemoprevention. Moreover, current hot issues, such as the identification of novel causal genes and the challenges we face, and the relevance of cancer risk modifiers, both genetic and environmental, are also discussed. This reference book is great for geneticists, oncologists, genetic counselors, researchers, clinicians, surgeons and nurses dedicated to, or interested in, hereditary cancer. The best and most recognized experts in the field have contributed to this project, guaranteeing updated information, accuracy and the discussion of topical issues.

Precision Medicine in Practice Molecular Diagnosis Enabling Precision Therapies An Issue of the Clinics in Laboratory Medicine EBook

Precision Medicine in Practice  Molecular Diagnosis Enabling Precision Therapies  An Issue of the Clinics in Laboratory Medicine  EBook Book
Author : Ryan J. Schmidt
Publisher : Elsevier Health Sciences
Release : 2020-06-21
ISBN : 0323758460
Language : En, Es, Fr & De

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Book Description :

This issue of Clinics in Laboratory Medicine will cover Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies. Curated by Dr. Ryan J. Schmidt, this issue is one of four selected each year by the series Consulting Editor, Milenko Tanasijevic. The volume will include articles on: Features of a Comprehensive Precision Medicine Program for Constitutional Genetic Disorders, Establishing a Precision Medicine Center of Excellence for Rare Disease, High-throughput DNA Sequencing for Rare Disease Diagnosis, Enhancing Diagnosis through RNA Sequencing, Interpretation of Rare Genetic Variants, Clinical Bioinformatics, Precision Therapies for Retinal Dystrophy, Precision Therapies for Muscular Dystrophy, Therapeutic Gene Editing, High Throughput Functional Studies of Genetic Variants, and Patient-specific Disease Models.

Annals of Clinical Biochemistry

Annals of Clinical Biochemistry Book
Author : Anonim
Publisher : Unknown
Release : 2003
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Annals of Clinical Biochemistry book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations

Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations Book
Author : Ali Samadikuchaksaraei,Morteza Seifi
Publisher : BoD – Books on Demand
Release : 2019-09-04
ISBN : 1789237998
Language : En, Es, Fr & De

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Book Description :

Genomic variations and phenotypic diversity are closely linked and form the underlying mechanism for development of many human diseases. This book addresses the methods of detection, analysis, and interpretation of genomic variations in clinically relevant scenarios. If your research or clinical practice involves handling of genomic sequencing data, this book is for you. Topics covered include: methods for identifying genetic diversity, the workflow for analyzing whole exome and whole genome sequencing data, local ancestry deconvolution models, the value of molecular patterns and pattern biomarkers in cancer diagnosis and prognosis, and genotyping and profiling resistance-associated variants of hepatitis C. If your research or clinical practice involves handling of genomic sequencing data, this book is for you.

Exome Sequence Analysis and Interpretation

Exome Sequence Analysis and Interpretation Book
Author : Vinod Scaria,Sridhar Sivasubbu
Publisher : Research in Genomics
Release : 2015-02-11
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

A concise handbook on exome sequencing for clinicians and clinical geneticists.

Molecular Pathology in Clinical Practice

Molecular Pathology in Clinical Practice Book
Author : Debra G.B. Leonard
Publisher : Springer
Release : 2016-02-02
ISBN : 331919674X
Language : En, Es, Fr & De

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Book Description :

This authoritative textbook offers in-depth coverage of all aspects of molecular pathology practice and embodies the current standard in molecular testing. Since the successful first edition, new sections have been added on pharmacogenetics and genomics, while other sections have been revised and updated to reflect the rapid advances in the field. The result is a superb reference that encompasses molecular biology basics, genetics, inherited cancers, solid tumors, neoplastic hematopathology, infectious diseases, identity testing, HLA typing, laboratory management, genomics and proteomics. Throughout the text, emphasis is placed on the molecular variations being detected, the clinical usefulness of the tests and important clinical and laboratory issues. The second edition of Molecular Pathology in Clinical Practice will be an invaluable source of information for all practicing molecular pathologists and will also be of utility for other pathologists, clinical colleagues and trainees.

Exploring Personal Genomics

Exploring Personal Genomics Book
Author : Joel T. Dudley,Konrad J. Karczewski
Publisher : OUP Oxford
Release : 2013-01-03
ISBN : 0191663778
Language : En, Es, Fr & De

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Book Description :

Rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their complete genome sequence. This promises to offer unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we begin our lives, how we develop and grow, how we interact with our environment, how we get sick, how we get well, and how we age. Personal genomics is an essential component of the inevitable transition towards personalized health and medicine. As the medical establishment begins to explore and evaluate the role of personal genomics in health and medicine, both clinicians and patients alike will gain from becoming well versed in both the power and the pitfalls of personal genomic information. Furthermore, it is likely that all students of the biomedical sciences will soon be required to gain crucial understanding in the emerging field of personal genomics. Exploring Personal Genomics provides a novel, inquiry-based approach to the understanding and interpretation of the practical, medical, physiological, and societal aspects of personal genomic information. The material is presented in two parts: the first provides readers of all backgrounds with a fundamental understanding of the biology of human genomes, information on how to obtain and understand digital representations of personal genomic data, tools and techniques for exploring the personal genomics of ancestry and genealogy, discovery and interpretation of genetic trait associations, and the role of personal genomics in drug response. The second part offers more advanced readers an understanding of the science, tools, and techniques for investigating interactions between a personal genome and the environment, connecting DNA to physiology, and assessing rare variants and structural variation. This book aims to support undergraduate and graduate studies in medicine, genetics, molecular biology, and bioinformatics. Additionally, the design of the content is such that medical practitioners, professionals working in the biomedical sciences or related fields, and motivated lay individuals interested in exploring their personal genetic data should find it relevant and approachable.

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics Book
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release : 2021-11-15
ISBN : 9780128152362
Language : En, Es, Fr & De

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Book Description :

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Genomic Testing and Therapeutics thoroughly examines genomic testing techniques and technologies as applied in clinical diagnostics, prognosis, and personalized management of inherited and somatic disorders. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. Fully revised and up-to-date, this new edition introduces genetic researchers, students, and healthcare professionals to genomic technologies, testing, and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Clinical Hematology

Clinical Hematology Book
Author : E. Anne Stiene-Martin,Cheryl A. Lotspeich-Steininger,John A. Koepke
Publisher : Lippincott Williams & Wilkins
Release : 1998
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

This second edition provides comprehensive coverage of all areas of clinical haematology, including: bone marrow evaluation; blood cellcytochemistry; body fluid evaluation; haematologic instrumentation; and quality control and quality assurance for haematology and haemostasis laboratories.

Current Challenges in Cardiovascular Molecular Diagnostics

Current Challenges in Cardiovascular Molecular Diagnostics Book
Author : Matteo Vatta,Valeria Novelli,Luisa Mestroni,Jeffrey A. Towbin,Carlo Napolitano,Guia Guffanti
Publisher : Frontiers Media SA
Release : 2017-09-12
ISBN : 2889452816
Language : En, Es, Fr & De

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Book Description :

The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition. In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of “accessory” deleterious genetic variants other than the key molecular culprit. The objective of this Research Topic is to explore the current challenges presenting to the cardiovascular genetics providers, such as clinical geneticists, genetic counselors, clinical molecular geneticists and molecular pathologists involved in the diagnosis, counseling, testing and interpretation of genetic tests results for the comprehensive management of patients affected by cardiovascular genetic disorders.

Implementation of a Novel Analytical Framework for Large scale Genetic Data

Implementation of a Novel Analytical Framework for Large scale Genetic Data Book
Author : Sílvia Bonàs Guarch
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

The major landmark in modern genomic and biological research has been the first survey of the entire human genome. On June 2000 the staging of Bill Clinton along with Craig Venter and Francis Collins extolled how genome science would impact our lives by revolutionizing diagnosis, prevention and treatment for a vast number of human diseases (Collins 2010). Since that, we underwent a breathtaking progress in genome science with the unique conjunction of the development of new technologies such as Next Generation Sequencing (NGS) or genotyping arrays (Collins 2010; Hofker et al. 2014) and extensive data sharing initiatives catalysing new discoveries (Kaye et al. 2009; Collins 2010; Hood and Rowen 2013). To underscore the magnitude of this summit, the first sequence from the Human Genome Project (HGP) took 13 years and several collaborative efforts from a lace of international public research institutions entailing a 3 billion budget (U.S. Department of Energy & Human Genome Project program). Less than a decade later, NGS technologies have been implemented for clinical diagnosis, we entered in the $1,000 genome era, and the last Illumina sequencer, HiSeq X Ten is capable of producing up to 16 human genomes (1.8 terabases of data) in three days (Hayden 2014). The success of NGS led to an astonishing rate of growth of sequence data (Koboldt et al. 2013), which is doubling every seven months (Stephens et al. 2015). A downstream consequence has been the rapid accumulation of the number of sequenced genomes of many vertebrates, invertebrates, fungi, plants and microorganisms enabling tackling evolution and genome function through the rationale of comparative genomics (Collins 2010). In addition, the build-up of sequence data of thousands of human subjects contributed to catalogue the genetic differences between individuals, or also called as genetic variation (Hofker et al. 2014). There are different types of genetic variation but the most abundant are Single Nucleotide Polymorphisms (SNPs) (Stranger et al. 2011), substitutions of single nucleotides. While the HGP reported around 1.4 M of SNPs (Lander et al. 2001) more than 84 M of SNPs have been described in the new phase 3 release of the 1000 Genomes Project (1000G-Phase3) (Sudmant et al. 2015; The 1000 Genomes Project Consortium et al. 2015). A final example to illustrate the large efforts invested in more accurate descriptions of genetic variation is the last work published from the Exome Aggregation Consortium (ExAC). This study involved the aggregation and analysis of exomic regions through sequencing data of 60,706 individuals (Lek et al. 2016). The disposal of this kind of data showed a widespread mutational recurrence in human genomes, it allowed detecting genes subjected to strong selection depending on the class of mutation and it is expected to facilitate the clinical interpretation of disease-causing variants (Lek et al. 2016). Thus, the accumulation of individual genetic data has empowered researchers to unravel those specific genetic variants associated with disease liability. We also moved from biologically guided candidate single gene-studies involving a few hundreds of individuals towards hypothesis-free genome-wide analysis, performing extensive and massive genomic interrogation of thousands of individuals (Relling and Evans 2015; Wang et al. 2015). Piecing these advances all together, we have expanded our understanding of disease pathophysiology. Therefore, integrating the genetic understanding of the health-status alongside with clinical explorations constitutes the idea beneath personalized medicine. This genomic paradigm shift for clinical medicine provides a new source of therapeutic breakthroughs and diagnosis (Hood and Rowen 2013). As an example of this, targeted therapeutics have been resourceful for the treatment of lung cancer: sequence information revealed that tumours carrying specific mutations in the epidermal growth factor receptor (EGFR) were vulnerable to kinase inhibitors, resulting in higher response rates compared to traditional platinum-based chemotherapy (Levy et al. 2012; Swanton and Govindan 2016). Moreover, genetic tests are able to predict which breast cancer patients will benefit from chemotherapy (Innocenti et al. 2011; Gyorffy et al. 2015). Finally, notable successes have been achieved in pharmacogenomics, in which warfarin dose can be adjusted on the basis of genetic polymorphisms placed in CYP2C8 and VKORC1C genes (Collins 2010; Hood and Rowen 2013; Relling and Evans 2015). In line with this, there are large efforts under way to prioritize targeted therapeutics and to optimize drug selection and dosing, such as the Genomics England 100,000 Genomes Project and the US National of Health (NIH) Pharmacogenomics Research Network (Relling and Evans 2015; Wilson and Nicholls 2015). However, clear successes in clinical decision-making through genomic knowledge are anecdotal due to a poor understanding of human genetic diseases (Hofker et al. 2014; Relling and Evans 2015). For instance, Genome Wide Association Studies (GWAS) is undoubtedly one of the most important methodological advances emerging from the availability of complete human genome sequences and affordable DNA chips (Visscher et al. 2012; Hofker et al. 2014; Paul et al. 2014). GWAS have been extremely resourceful in identifying genetic variants associated with multiple diseases, but the translation of these results to clinics is sparse (Manolio et al. 2009; Collins 2010; Hofker et al. 2014). Some of the limitations lie on (1) the still small proportion of disease causing genetic factors identified for most complex diseases and (2) a lack of functional characterization and interpretation of disease associated variants, which hampers the identification of the underlying molecular mechanism (Manolio et al. 2009; Hofker et al. 2014). The genomic revolution has brought new decisive players for the future trend in biomedical research and clinical genetics. The ‘genomical' challenge is one of the most demanding Big Data sciences in all four big computer science domains (data acquisition, storage, distribution and computation). In order to meet this rapid progress of genomic research, the build-up of whole-genome sequences and the emergence of large population biobanks (Stephens et al. 2015) urges a parallel development of computational frameworks. Moreover, a real social concern about data privacy can discourage the participation in genetic studies, which requires a major discussion about the ethical consequences of the return of information to participants seeking for genetic diagnosis (Hood and Rowen 2013; Koboldt et al. 2013). From this brief overview, the agenda of human genomics has clearly many issues to address. In this thesis I translated some of them into the following general goal: setting a cost-effective genetic research environment through the implementation of novel analytical and computational methods in order to better understand the genetics of Type 2 Diabetes (T2D). This work

Practical Genetic Counseling for the Laboratory

Practical Genetic Counseling for the Laboratory Book
Author : McKinsey L. Goodenberger,Brittany C. Thomas,Teresa Kruisselbrink
Publisher : Oxford University Press
Release : 2017-02-28
ISBN : 0190604948
Language : En, Es, Fr & De

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Book Description :

An essential manual for the future of genetic counseling Genetic counselors possess the important set of skills necessary to face the unique challenges encountered within the laboratory. As the primary liaisons between genetic technologies and patient-facing clinicians, lab counselors must have equal competency in genetic testing protocols, interpretation, and communication of clinical recommendations. Practical Genetic Counseling for the Laboratory is the first book to codify the theory and practice of laboratory genetic counseling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counselors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counselors at any career stage. Topical coverage includes: · Interpretation of genetic tests, including those specific to biochemical genetics, cytogenetics, molecular genetics, and prenatal screening · Practical guidelines for test utilization, test development, and laboratory case management · Elements for education and training in the laboratory · Counseling skills, including the consideration of ethical dilemmas, nonclinical considerations, including sales and publishing For students in this important sector of the industry or for counselors already working in it, Practical Genetic Counseling for the Laboratory offers readers a standardized approach to a dynamic subject matter that will help shape the field's future.

Precision Medicine A Guide to Genomics in Clinical Practice

Precision Medicine  A Guide to Genomics in Clinical Practice Book
Author : Jeanette J. McCarthy,Bryce A. Mendelsohn
Publisher : McGraw Hill Professional
Release : 2017-01-05
ISBN : 1259644146
Language : En, Es, Fr & De

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Book Description :

Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. Features that make this book valuable to every practice: •Intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support •Follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage •Organization allows healthcare providers to quickly and easily find the information relevant to their practice. •The authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare •Enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practicebelongs on your desk.

Cancer Research

Cancer Research Book
Author : Anonim
Publisher : Unknown
Release : 2008-05
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Cancer Research book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The Genetics of Type 2 Diabetes and Related Traits

The Genetics of Type 2 Diabetes and Related Traits Book
Author : Jose C. Florez
Publisher : Springer
Release : 2016-04-11
ISBN : 3319015745
Language : En, Es, Fr & De

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Book Description :

This book presents the state of the art of type 2 diabetes genetics, from the process of genetic discovery to its interpretation and clinical application, and illustrates a model for other complex human phenotypes.The first section explores genome-wide association studies, the extension of this method to less accessible phenotypes and the arrival of next-generation sequencing. A further section goes beyond genetics to illustrate how other data sources can help interpret genetic data, such as leveraging population diversity, the correlation of genetic associations with physiological measurements, gene expression modulation, environmental factors and our microbial commensals. The third section describes advances in elucidating the complex path from association to function using in-depth sequencing and functional studies of the cellular and molecular effects of genes in the loci identified by genetics. The final section links our current understanding with clinically relevant questions, such as prediction, interactions with drugs or nutrients, and disease prevention, and paints a realistic but hopeful vision of the future. ​

Encyclopedia of Analytical Science

Encyclopedia of Analytical Science Book
Author : Anonim
Publisher : Unknown
Release : 1995
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Encyclopedia of Analytical Science book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Journal of Clinical Microbiology

Journal of Clinical Microbiology Book
Author : Anonim
Publisher : Unknown
Release : 2004
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Journal of Clinical Microbiology book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.