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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 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

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 : 2021-11-02
ISBN : 0128152370
Language : En, Es, Fr & De

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Book Description :

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition 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 in this growing field. The book is ideal 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. 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. 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 that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

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 : Elsevier
Release : 2021-11-29
ISBN : 0128152362
Language : En, Es, Fr & De

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Book Description :

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition 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 in this growing field. The book is ideal 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. 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. 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 that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Advances in Molecular Pathology E Book 2021

Advances in Molecular Pathology  E Book 2021 Book
Author : Gregory J. Tsongalis
Publisher : Elsevier Health Sciences
Release : 2021-10-13
ISBN : 0323813364
Language : En, Es, Fr & De

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Book Description :

Advances in Molecular Pathology is an annual review publication that covers the current practices and latest developments in the field of Molecular Pathology. Each issue is divided into sections for comprehensive coverage of all subspecialty areas within molecular pathology, including, Genetics, Hematopathology, Infectious Disease, Pharmacogenomics, Informatics, Solid Tumors, and special topics on COVID-19. The Editor-in-Chief of the publication is Dr. Gregory Tsongalis, a leading expert in the field. Topics covered this year include but are not limited to: Phenotype Association and Variant Pathogenicity Prediction Tools in Genomic Analysis; The application of noninvasive prenatal screening to detect copy number variations; Next generation cytogenomics using optical mapping; Review of molecular in APL; NGS for MRD in acute leukemia; Review of emerging technologies as they pertain to infectious disease testing; Germline genetic variants that predict drug response; Nutrigenomics; PGx of hypertension; Genomic data for blood typing, specifically both through NGS and arrays; Preanalytic Variables and Tissue Stewardship for Reliable Next-Generation Sequencing (NGS) Clinical Analysis; and Cell-free nucleic acids in cancer: Current approaches, challenges, and future directions.

Managing Health in the Genomic Era

Managing Health in the Genomic Era Book
Author : Vincent Henrich,Lori A. Orlando,Brian H. Shirts
Publisher : Academic Press
Release : 2020-06-27
ISBN : 0128160160
Language : En, Es, Fr & De

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Book Description :

In Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk, Drs. Vincent C. Henrich, Lori A. Orlando, and Brian H. Shirts discuss the practical considerations surrounding the use of genomic and genetic tests to manage patient health, to provide adult disease risk assessment, to improve diagnosis, and to support effective interventions and treatment. In 10 chapters, evidence-based information and case studies are described and examine the central place of family health history (FHH) in genomic medicine, tools and strategies for compiling and analyzing family health history, how to identify existing and novel genetic markers, how to identify lineage specific (or rare) variants within families, and how to find effective interventions based on genetic testing results and FHH. Factors that influence clinical practice, including gene-environment interactions, FHH social networking, direct to consumer (DTC) genetic testing and data sharing, algorithms for analyzing genetic data, and patient counseling are discussed from the standpoint of clinical practice. Here, frontline healthcare providers will discover succinct commentary and key examples to assist with their local needs. Relevant principles of genetic biology and inheritance are explored and guidance on available support networks and online resources is also provided Presents a practical, accessible resource for primary care providers, allied health professionals, pharmacologists, public health professionals, students and clinical researchers Addresses genetic and genomic approaches in managing patient health, conducting and analyzing family health histories, and assessing adult disease risk Features an expert author team with direct experience integrating genetics and genomics in primary care and family medicine settings Examines the attributes and limitations of family health history, genetic testing, and genomic testing in clinical practice Includes detailed explanations following practice-based examples

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

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

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.

DNA Sequencing

DNA Sequencing Book
Author : Feng Zeng
Publisher : Springer
Release : 2017-09-09
ISBN : 9783662545935
Language : En, Es, Fr & De

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Book Description :

This thesis addresses practical data quality and variant detection issues regarding research on next-generation DNA sequencing. It develops for the first time a hidden Markov model (HMM) to describe the error pattern and data generation of next-generation DNA sequencers. Further, it proposes using a haplotype-based method, which employs the HMM and re-alignment to suppress the interference of sequencing errors and incorrect alignments, in order to improve the detection accuracy of SNPs and InDels. Lastly, the thesis sheds new light on the interpretation and application of error modeling for next-generation DNA sequencing.

Clinical Applications for Next Generation Sequencing

Clinical Applications for Next Generation Sequencing Book
Author : Urszula Demkow,Rafal Ploski
Publisher : Academic Press
Release : 2015-09-10
ISBN : 0128018410
Language : En, Es, Fr & De

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Book Description :

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

Benign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances Book
Author : Thomas Liehr
Publisher : Academic Press
Release : 2013-08-31
ISBN : 0124046843
Language : En, Es, Fr & De

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Book Description :

Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques

Variant Haemoglobins

Variant Haemoglobins Book
Author : Barbara J. Bain,Barbara Wild,Adrian Stephens,Lorraine Phelan
Publisher : John Wiley & Sons
Release : 2011-06-28
ISBN : 1444347675
Language : En, Es, Fr & De

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Book Description :

Variant Haemoglobins – A Guide to Identification is based on the premise that any single diagnostic technique offers only a very provisional identification of a variant haemoglobin. In routine diagnostic practice two techniques are needed as a minimum, with the results being interpreted in the light of the clinical details, blood count, blood film and ethnic origin. This book covers 150 normal and variant haemoglobins that have been studied and carefully documented. Variant Haemoglobins has four introductory chapters followed by an invaluable atlas. The introductory chapters cover the genetics of haemoglobin synthesis the principles of tests employed for identification common haemoglobins of major clinical or diagnostic importance thalassaemias and related conditions The atlas section comprises 170 full colour pages in which each variant haemoglobin or combination of haemoglobins is illustrated by cellulose acetate electrophoresis at alkaline pH, agarose gel electrophoresis at acid pH, isoelectric focusing and one or more HPLC traces. For ease of reference, the atlas pages are arranged according to the retention time of each haemoglobin on HPLC, this becoming increasingly the primary technique employed in haemoglobin identification. Bringing a mix of necessary scientific expertise and clinical knowledge, each author has more than 30 years experience in the diagnosis of variant haemoglobins. Providing otherwise unavailable information, this unique and practical guide is illustrated with over 700 high quality colour digital images plus flow charts and line diagrams covers common and important haemoglobin variants, in addition to many rarer ones is an essential reference source for diagnosis in the haematology laboratory A remarkably useful book, Variant Haemoglobins will be valuable for haematopathologists, clinical and laboratory haematologists in practice and in training and all laboratory staff involved in haemoglobinopathy diagnosis.

Newborn Screening for Inborn Errors of Metabolism

Newborn Screening for Inborn Errors of Metabolism Book
Author : Mohamed A. Elmonem,Lambertus Petrus Van Den Heuvel
Publisher : Frontiers Media SA
Release : 2021-10-29
ISBN : 2889715671
Language : En, Es, Fr & De

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Book Description :

Download Newborn Screening for Inborn Errors of Metabolism book written by Mohamed A. Elmonem,Lambertus Petrus Van Den Heuvel, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Intelligent Information Systems

Intelligent Information Systems Book
Author : Selmin Nurcan,Axel Korthaus
Publisher : Springer Nature
Release : 2021-06-14
ISBN : 3030791084
Language : En, Es, Fr & De

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Book Description :

This book constitutes the thoroughly refereed proceedings of the CAiSE Forum 2021 which was held as part of the 33rd International Conference on Advanced Information Systems Engineering, CAiSE 2021, in June 2021. The conference was held virtually due to the COVID-19 pandemic. The CAiSE Forum is a place within the CAiSE conference for presenting and discussing new ideas and tools related to information systems engineering. Intended to serve as an interactive platform, the Forum aims at the presentation of emerging new topics and controversial positions, as well as demonstration of innovative systems, tools and applications. This year’s theme was “Intelligent Information Systems”. The 18 full papers presented in this volume were carefully reviewed and selected for inclusion in this book.

Clinical Bioinformatics

Clinical Bioinformatics Book
Author : Ronald J.A. Trent
Publisher : Springer Science & Business Media
Release : 2007-12-18
ISBN : 1588297918
Language : En, Es, Fr & De

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Book Description :

With the ever-increasing volume of information in clinical medicine, researchers and health professionals need computer-based storage, processing and dissemination. In this book, leading experts in the field provide a series of articles focusing on software applications used to translate information into outcomes of clinical relevance. This book is the perfect guide for researchers and clinical scientists working in this emerging "omics" era.

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.

Medical and Health Genomics

Medical and Health Genomics Book
Author : Dhavendra Kumar,Stylianos Antonarakis
Publisher : Academic Press
Release : 2016-06-04
ISBN : 0127999221
Language : En, Es, Fr & De

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Book Description :

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Oxford Handbook of Endocrinology and Diabetes 4e

Oxford Handbook of Endocrinology and Diabetes 4e Book
Author : Katharine Owen,Helen Turner,John Wass
Publisher : Oxford University Press
Release : 2022-02-12
ISBN : 0198851898
Language : En, Es, Fr & De

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Book Description :

Practical, concise, and fully updated with three new chapters on aspects of endocrinology and diabetes, this new edition is the must-have guide for all trainees and specialist nurses in both disciplines

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.

In Silico Tools for Gene Discovery

In Silico Tools for Gene Discovery Book
Author : Bing Yu,Marcus Hinchcliffe
Publisher : Humana Press
Release : 2011-07-23
ISBN : 9781617791758
Language : En, Es, Fr & De

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Book Description :

As functional genomics has become one of the major focuses in molecular biology, the need for more sophisticated tools to assist in the identification of the functionality of undefined genes and the correlation of DNA variants with a particular phenotype has increased greatly. In Silico Tools for Gene Discovery collects many common and useful in silico tools available today. The volume begins by investigating locus mapping information on linkage analysis, association mapping, integrative analysis, and exome analysis as well as tools for DNA marker selection, in silico PCR, and statistical analysis. It continues with a section on gene discovery from a defined locus, including gene prioritization, knowledge tracking, and data mining, and concludes with several useful in silico tools presented for the functional characterization of genes, which include DNA sequencing analysis, variant characterization, as well as RNA and protein analysis. Written in the highly successful Methods in Molecular BiologyTM series format, chapters include introductions to their respective topics, step-by-step, readily reproducible protocols, and vital notes on troubleshooting and avoiding known pitfalls. Resourceful and easy to follow, In Silico Tools for Gene Discovery seeks to facilitate scientists with further key research on locus mapping, to accelerate gene identification, and to help ascertain the functionality of DNA variation.