Interpretation Stratification And Validation Of Sequence Variants Affecting Mrna Splicing In Complete Human Genome Sequences

Download Interpretation Stratification And Validation Of Sequence Variants Affecting Mrna Splicing In Complete Human Genome Sequences full books in PDF, epub, and Kindle. Read online Interpretation Stratification And Validation Of Sequence Variants Affecting Mrna Splicing In Complete Human Genome Sequences ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!

Childhood Acute Lymphoblastic Leukemia

Download Childhood Acute Lymphoblastic Leukemia PDF Online Free

Author : Ajay Vora
Publisher : Springer
ISBN 13 : 3319397087
Total Pages : 345 pages
Book Rating : 4.3/5 (193 download)

Book Synopsis Childhood Acute Lymphoblastic Leukemia by : Ajay Vora

Download or read book Childhood Acute Lymphoblastic Leukemia written by Ajay Vora and published by Springer. This book was released on 2017-04-21 with total page 345 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive and up-to-date review of all aspects of childhood Acute Lymphoblastic Leukemia, from basic biology to supportive care. It offers new insights into the genetic pre-disposition to the condition and discusses how response to early therapy and its basic biology are utilized to develop new prognostic stratification systems and target therapy. Readers will learn about current treatment and outcomes, such as immunotherapy and targeted therapy approaches. Supportive care and management of the condition in resource poor countries are also discussed in detail. This is an indispensable guide for research and laboratory scientists, pediatric hematologists as well as specialist nurses involved in the care of childhood leukemia.

RNA Splicing and Backsplicing: Disease and Therapy

Download RNA Splicing and Backsplicing: Disease and Therapy PDF Online Free

Author : Rosanna Asselta
Publisher : Frontiers Media SA
ISBN 13 : 2889662357
Total Pages : 197 pages
Book Rating : 4.8/5 (896 download)

Book Synopsis RNA Splicing and Backsplicing: Disease and Therapy by : Rosanna Asselta

Download or read book RNA Splicing and Backsplicing: Disease and Therapy written by Rosanna Asselta and published by Frontiers Media SA. This book was released on 2020-12-24 with total page 197 pages. Available in PDF, EPUB and Kindle. Book excerpt: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.

Dilated Cardiomyopathy

Download Dilated Cardiomyopathy PDF Online Free

Author : Gianfranco Sinagra
Publisher : Springer
ISBN 13 : 303013864X
Total Pages : 239 pages
Book Rating : 4.0/5 (31 download)

Book Synopsis Dilated Cardiomyopathy by : Gianfranco Sinagra

Download or read book Dilated Cardiomyopathy written by Gianfranco Sinagra and published by Springer. This book was released on 2019-05-17 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book presents a comprehensive overview of dilated cardiomyopathy, providing readers with practical guidelines for its clinical management. The first part of the book analyzes in detail the disease’s pathophysiology, its diagnostic work up as well as the prognostic stratification, and illustrates the role of genetics and gene-environment interaction. The second part presents current and future treatment options, highlighting the importance of long-term and individualized treatments and follow-up. Furthermore, it discusses open issues, such as the apparent healing phenomenon, the early prognosis of arrhythmic events or the use of genetic testing in clinical practice. Offering a multidisciplinary approach for optimizing the clinical management of DCM, this book is an invaluable aid not only for the clinical cardiologists, but for all physicians involved in the care of this challenging disease.

Clinical Genomics

Download Clinical Genomics PDF Online Free

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

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

Gene and Protein Evolution

Download Gene and Protein Evolution PDF Online Free

Author : Jean-Nicolas Volff
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805583400
Total Pages : 203 pages
Book Rating : 4.8/5 (55 download)

Book Synopsis Gene and Protein Evolution by : Jean-Nicolas Volff

Download or read book Gene and Protein Evolution written by Jean-Nicolas Volff and published by Karger Medical and Scientific Publishers. This book was released on 2007-01-01 with total page 203 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Our way of understanding evolution has changed completely with the era of genomics, particularly since the emergence of comparative genomics, a discipline allowing the analysis of complete genomes and biological processes over vast periods of time. In this volume, internationally recognized experts present and discuss an update of the evolutionary processes at the onset of organismal diversification and complexity, and review the mechanisms leading to the acquisition of new traits and functions. Different levels of evolution are considered, from internal modules in genes and proteins to interactomes and biological networks, with integration of the influence of both the genomic environment and the ecological context. Particular emphasis will be given to the origin of novel genes and gene functions as well as to the evolutionary impact of the duplication of genetic information, with several chapters devoted to transposable elements. Providing an excellent update on gene and protein evolution, this book will be appreciated by researchers in biology and medicine, biology teachers and anyone interested in evolution and genomics."--Publisher's description.

Clinical Genome Sequencing

Download Clinical Genome Sequencing PDF Online Free

Author : Aad Tibben
Publisher : Academic Press
ISBN 13 : 9780128133354
Total Pages : 0 pages
Book Rating : 4.1/5 (333 download)

Book Synopsis Clinical Genome Sequencing by : Aad Tibben

Download or read book Clinical Genome Sequencing written by Aad Tibben and published by Academic Press. This book was released on 2019-04-03 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genetic Dissection of Complex Traits

Download Genetic Dissection of Complex Traits PDF Online Free

Author : D.C. Rao
Publisher : Academic Press
ISBN 13 : 0080569110
Total Pages : 788 pages
Book Rating : 4.0/5 (85 download)

Book Synopsis Genetic Dissection of Complex Traits by : D.C. Rao

Download or read book Genetic Dissection of Complex Traits written by D.C. Rao and published by Academic Press. This book was released on 2008-04-23 with total page 788 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of genetics is rapidly evolving and new medical breakthroughs are occuring as a result of advances in knowledge of genetics. This series continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines. Five sections on the latest advances in complex traits Methods for testing with ethical, legal, and social implications Hot topics include discussions on systems biology approach to drug discovery; using comparative genomics for detecting human disease genes; computationally intensive challenges, and more

Cytogenomics

Download Cytogenomics PDF Online Free

Author : Thomas Liehr
Publisher : Academic Press
ISBN 13 : 0128235802
Total Pages : 430 pages
Book Rating : 4.1/5 (282 download)

Book Synopsis Cytogenomics by : Thomas Liehr

Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book's second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. - Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies - Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease - Features chapter contributions from international leaders in the field

Molecular Epidemiology

Download Molecular Epidemiology PDF Online Free

Author : Paul A. Schulte
Publisher : Academic Press
ISBN 13 : 0323138578
Total Pages : 609 pages
Book Rating : 4.3/5 (231 download)

Book Synopsis Molecular Epidemiology by : Paul A. Schulte

Download or read book Molecular Epidemiology written by Paul A. Schulte and published by Academic Press. This book was released on 2012-12-02 with total page 609 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.

Population Genetics, Molecular Evolution, and the Neutral Theory

Download Population Genetics, Molecular Evolution, and the Neutral Theory PDF Online Free

Author : Motoo Kimura
Publisher : University of Chicago Press
ISBN 13 : 9780226435633
Total Pages : 736 pages
Book Rating : 4.4/5 (356 download)

Book Synopsis Population Genetics, Molecular Evolution, and the Neutral Theory by : Motoo Kimura

Download or read book Population Genetics, Molecular Evolution, and the Neutral Theory written by Motoo Kimura and published by University of Chicago Press. This book was released on 1994 with total page 736 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of this century's leading evolutionary biologists, Motoo Kimura revolutionized the field with his random drift theory of molecular evolution—the neutral theory—and his groundbreaking theoretical work in population genetics. This volume collects 57 of Kimura's most important papers and covers forty years of his diverse and original contributions to our understanding of how genetic variation affects evolutionary change. Kimura's neutral theory, first presented in 1968, challenged the notion that natural selection was the sole directive force in evolution. Arguing that mutations and random drift account for variations at the level of DNA and amino acids, Kimura advanced a theory of evolutionary change that was strongly challenged at first and that eventually earned the respect and interest of evolutionary biologists throughout the world. This volume includes the seminal papers on the neutral theory, as well as many others that cover such topics as population structure, variable selection intensity, the genetics of quantitative characters, inbreeding systems, and reversibility of changes by random drift. Background essays by Naoyuki Takahata examine Kimura's work in relation to its effects and recent developments in each area.

Clinical DNA Variant Interpretation

Download Clinical DNA Variant Interpretation PDF Online Free

Author : Conxi Lázaro
Publisher : Academic Press
ISBN 13 : 0128205202
Total Pages : 438 pages
Book Rating : 4.1/5 (282 download)

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 438 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

Genome Data Analysis

Download Genome Data Analysis PDF Online Free

Author : Ju Han Kim
Publisher : Springer
ISBN 13 : 9811319421
Total Pages : 367 pages
Book Rating : 4.8/5 (113 download)

Book Synopsis Genome Data Analysis by : Ju Han Kim

Download or read book Genome Data Analysis written by Ju Han Kim and published by Springer. This book was released on 2019-04-30 with total page 367 pages. Available in PDF, EPUB and Kindle. Book excerpt: This textbook describes recent advances in genomics and bioinformatics and provides numerous examples of genome data analysis that illustrate its relevance to real world problems and will improve the reader’s bioinformatics skills. Basic data preprocessing with normalization and filtering, primary pattern analysis, and machine learning algorithms using R and Python are demonstrated for gene-expression microarrays, genotyping microarrays, next-generation sequencing data, epigenomic data, and biological network and semantic analyses. In addition, detailed attention is devoted to integrative genomic data analysis, including multivariate data projection, gene-metabolic pathway mapping, automated biomolecular annotation, text mining of factual and literature databases, and integrated management of biomolecular databases. The textbook is primarily intended for life scientists, medical scientists, statisticians, data processing researchers, engineers, and other beginners in bioinformatics who are experiencing difficulty in approaching the field. However, it will also serve as a simple guideline for experts unfamiliar with the new, developing subfield of genomic analysis within bioinformatics.

Genomics in the Cloud

Download Genomics in the Cloud PDF Online Free

Author : Geraldine A. Van der Auwera
Publisher : O'Reilly Media
ISBN 13 : 1491975164
Total Pages : 496 pages
Book Rating : 4.4/5 (919 download)

Book Synopsis Genomics in the Cloud by : Geraldine A. Van der Auwera

Download or read book Genomics in the Cloud written by Geraldine A. Van der Auwera and published by O'Reilly Media. This book was released on 2020-04-02 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: Data in the genomics field is booming. In just a few years, organizations such as the National Institutes of Health (NIH) will host 50+ petabytes—or over 50 million gigabytes—of genomic data, and they’re turning to cloud infrastructure to make that data available to the research community. How do you adapt analysis tools and protocols to access and analyze that volume of data in the cloud? With this practical book, researchers will learn how to work with genomics algorithms using open source tools including the Genome Analysis Toolkit (GATK), Docker, WDL, and Terra. Geraldine Van der Auwera, longtime custodian of the GATK user community, and Brian O’Connor of the UC Santa Cruz Genomics Institute, guide you through the process. You’ll learn by working with real data and genomics algorithms from the field. This book covers: Essential genomics and computing technology background Basic cloud computing operations Getting started with GATK, plus three major GATK Best Practices pipelines Automating analysis with scripted workflows using WDL and Cromwell Scaling up workflow execution in the cloud, including parallelization and cost optimization Interactive analysis in the cloud using Jupyter notebooks Secure collaboration and computational reproducibility using Terra

Data Mining for Genomics and Proteomics

Download Data Mining for Genomics and Proteomics PDF Online Free

Author : Darius M. Dziuda
Publisher : John Wiley & Sons
ISBN 13 : 0470593407
Total Pages : 348 pages
Book Rating : 4.4/5 (75 download)

Book Synopsis Data Mining for Genomics and Proteomics by : Darius M. Dziuda

Download or read book Data Mining for Genomics and Proteomics written by Darius M. Dziuda and published by John Wiley & Sons. This book was released on 2010-07-16 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Data Mining for Genomics and Proteomics uses pragmatic examples and a complete case study to demonstrate step-by-step how biomedical studies can be used to maximize the chance of extracting new and useful biomedical knowledge from data. It is an excellent resource for students and professionals involved with gene or protein expression data in a variety of settings.

Principles of Nutrigenetics and Nutrigenomics

Download Principles of Nutrigenetics and Nutrigenomics PDF Online Free

Author : Raffaele De Caterina
Publisher : Academic Press
ISBN 13 : 0128045876
Total Pages : 588 pages
Book Rating : 4.1/5 (28 download)

Book Synopsis Principles of Nutrigenetics and Nutrigenomics by : Raffaele De Caterina

Download or read book Principles of Nutrigenetics and Nutrigenomics written by Raffaele De Caterina and published by Academic Press. This book was released on 2019-09-22 with total page 588 pages. Available in PDF, EPUB and Kindle. Book excerpt: Principles of Nutrigenetics and Nutrigenomics: Fundamentals for Individualized Nutrition is the most comprehensive foundational text on the complex topics of nutrigenetics and nutrigenomics. Edited by three leaders in the field with contributions from the most well-cited researchers conducting groundbreaking research in the field, the book covers how the genetic makeup influences the response to foods and nutrients and how nutrients affect gene expression. Principles of Nutrigenetics and Nutrigenomics: Fundamentals for Individualized Nutrition is broken into four parts providing a valuable overview of genetics, nutrigenetics, and nutrigenomics, and a conclusion that helps to translate research into practice. With an overview of the background, evidence, challenges, and opportunities in the field, readers will come away with a strong understanding of how this new science is the frontier of medical nutrition. Principles of Nutrigenetics and Nutrigenomics: Fundamentals for Individualized Nutrition is a valuable reference for students and researchers studying nutrition, genetics, medicine, and related fields. - Uniquely foundational, comprehensive, and systematic approach with full evidence-based coverage of established and emerging topics in nutrigenetics and nutrigenomics - Includes a valuable guide to ethics for genetic testing for nutritional advice - Chapters include definitions, methods, summaries, figures, and tables to help students, researchers, and faculty grasp key concepts - Companion website includes slide decks, images, questions, and other teaching and learning aids designed to facilitate communication and comprehension of the content presented in the book

Novel Biomarkers in the Continuum of Breast Cancer

Download Novel Biomarkers in the Continuum of Breast Cancer PDF Online Free

Author : Vered Stearns
Publisher : Springer
ISBN 13 : 3319229095
Total Pages : 291 pages
Book Rating : 4.3/5 (192 download)

Book Synopsis Novel Biomarkers in the Continuum of Breast Cancer by : Vered Stearns

Download or read book Novel Biomarkers in the Continuum of Breast Cancer written by Vered Stearns and published by Springer. This book was released on 2016-03-17 with total page 291 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides a comprehensive review of established and novel biomarkers across the continuum of breast cancer. The volume covers topics related to breast cancer risk and prevention, prediction of response to today’s standard therapies, and markers capable of influencing treatment decisions in the near future. Chapter authors combine their wide-ranging expertise to review the current status of the biomarker and to offer their individual perspectives on how biomarkers may be used in future treatments and research. Breast cancer continues to be the most common malignancy diagnosed in women in the Western world. While there are multiple treatment approaches for breast cancer, today more than ever we recognize that each tumor is unique. The challenge ahead is to consider how to best use validated and novel biomarkers to select the most appropriate treatment(s) for individual patients.

The Genetics of African Populations in Health and Disease

Download The Genetics of African Populations in Health and Disease PDF Online Free

Author : Muntaser E. Ibrahim
Publisher : Cambridge University Press
ISBN 13 : 1107072026
Total Pages : 351 pages
Book Rating : 4.1/5 (7 download)

Book Synopsis The Genetics of African Populations in Health and Disease by : Muntaser E. Ibrahim

Download or read book The Genetics of African Populations in Health and Disease written by Muntaser E. Ibrahim and published by Cambridge University Press. This book was released on 2019-12-19 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.