Clinical DNA Variant Interpretation

Written By Conxi Lázaro
Clinical DNA Variant Interpretation
  • Publsiher : Academic Press
  • Release : 27 February 2021
  • ISBN : 0128205202
  • Pages : 436 pages
  • Rating : 4/5 from 21 reviews
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Read or download book entitled Clinical DNA Variant Interpretation written by Conxi Lázaro which was release on 27 February 2021, this book published by Academic Press. Available in PDF, EPUB and Kindle Format. 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 DNA Variant Interpretation

Clinical DNA Variant Interpretation
  • Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
  • Publisher : Academic Press
  • Release Date : 2021-02-27
  • Total pages : 436
  • ISBN : 0128205202
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Summary : 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, ...

Clinical Genomics

Clinical Genomics
  • Author : Shashikant Kulkarni,John Pfeifer
  • Publisher : Academic Press
  • Release Date : 2014-11-10
  • Total pages : 488
  • ISBN : 0128205202
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Summary : 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 ...

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

Emery and Rimoin   s Principles and Practice of Medical Genetics and Genomics
  • Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
  • Publisher : Academic Press
  • Release Date : 2021-11-02
  • Total pages : 318
  • ISBN : 0128205202
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Summary : 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 ...

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

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics
  • Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
  • Publisher : Elsevier
  • Release Date : 2021-11-29
  • Total pages : 318
  • ISBN : 0128205202
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Summary : 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 ...

Advances in Molecular Pathology E Book 2021

Advances in Molecular Pathology  E Book 2021
  • Author : Gregory J. Tsongalis
  • Publisher : Elsevier Health Sciences
  • Release Date : 2021-10-13
  • Total pages : 240
  • ISBN : 0128205202
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Summary : 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 ...

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
  • Author : Ryan J. Schmidt
  • Publisher : Elsevier Health Sciences
  • Release Date : 2020-06-21
  • Total pages : 240
  • ISBN : 0128205202
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Summary : 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 ...

Managing Health in the Genomic Era

Managing Health in the Genomic Era
  • Author : Vincent Henrich,Lori A. Orlando,Brian H. Shirts
  • Publisher : Academic Press
  • Release Date : 2020-06-27
  • Total pages : 238
  • ISBN : 0128205202
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Summary : 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 ...

Exome Sequence Analysis and Interpretation

Exome Sequence Analysis and Interpretation
  • Author : Vinod Scaria,Sridhar Sivasubbu
  • Publisher : Research in Genomics
  • Release Date : 2015-02-11
  • Total pages : 124
  • ISBN : 0128205202
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Summary : A concise handbook on exome sequencing for clinicians and clinical geneticists....

DNA Sequencing

DNA Sequencing
  • Author : Feng Zeng
  • Publisher : Springer
  • Release Date : 2017-09-09
  • Total pages : 126
  • ISBN : 0128205202
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Summary : 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 ...

Benign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances
  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release Date : 2013-08-31
  • Total pages : 220
  • ISBN : 0128205202
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Summary : 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 ...

Variant Haemoglobins

Variant Haemoglobins
  • Author : Barbara J. Bain,Barbara Wild,Adrian Stephens,Lorraine Phelan
  • Publisher : John Wiley & Sons
  • Release Date : 2011-06-28
  • Total pages : 260
  • ISBN : 0128205202
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Summary : 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 ...

Clinical Applications for Next Generation Sequencing

Clinical Applications for Next Generation Sequencing
  • Author : Urszula Demkow,Rafal Ploski
  • Publisher : Academic Press
  • Release Date : 2015-09-10
  • Total pages : 334
  • ISBN : 0128205202
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Summary : 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 ...

Newborn Screening for Inborn Errors of Metabolism

Newborn Screening for Inborn Errors of Metabolism
  • Author : Mohamed A. Elmonem,Lambertus Petrus Van Den Heuvel
  • Publisher : Frontiers Media SA
  • Release Date : 2021-10-29
  • Total pages : 212
  • ISBN : 0128205202
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Summary : Download or read online Newborn Screening for Inborn Errors of Metabolism written by Mohamed A. Elmonem,Lambertus Petrus Van Den Heuvel, published by Frontiers Media SA which was released on 2021-10-29. Get Newborn Screening for Inborn Errors of Metabolism Books now! Available in PDF, ePub and Kindle....

Intelligent Information Systems

Intelligent Information Systems
  • Author : Selmin Nurcan,Axel Korthaus
  • Publisher : Springer Nature
  • Release Date : 2021-06-14
  • Total pages : 163
  • ISBN : 0128205202
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Summary : 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 ...

Hereditary Colorectal Cancer

Hereditary Colorectal Cancer
  • Author : Laura Valle,Stephen B. Gruber,Gabriel Capellá
  • Publisher : Springer
  • Release Date : 2018-05-04
  • Total pages : 505
  • ISBN : 0128205202
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Summary : 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 ...