Overview

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.

Full Product Details

Author:   Conxi Lazaro (Head of the Molecular Diagnostic Unit, Hereditary Cancer Program, Barcelona, Spain) ,  Jordan Lerner-Ellis (Associate Professor, Mount Sinai Hospital, Toronto, Canada) ,  Amanda Spurdle (Associate Professor and Group Leader, Molecular Cancer Epidemiology, QIMR Berghofer Medical Research Institute, Australia) ,  George P. Patrinos
Publisher:   Elsevier Science Publishing Co Inc
Imprint:   Academic Press Inc
ISBN:  

9780128205198

ISBN 10:   0128205199
Pages:   464
Publication Date:   01 March 2021
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Paperback
Publisher's Status:   Forthcoming
Availability:   Not yet available  
This item is yet to be released. You can pre-order this item and we will dispatch it to you upon its release.

Table of Contents

Section I. Theoretical Framework 1. Introduction: The challenge of genomic variant interpretation 2. General considerations: Terminology and standards 3. International Consensus Guidelines for Constitutional Sequence Variant Interpretation 4. Clinical and genetic evidence and population evidence 5. Functional evidence (I) Transcripts and RNA splicing outline 6. Functional evidence (II) Proteins and enzyme function and large scale mutagenesis 7. Functional evidence: model organisms 8. Somatic variant interpretation 9. Use of somatic mutations/somatic profiling to classify germline mutations 10. CNV interpretation 11. Quantitative Modelling: Multifactorial integration of data 12. The computational approach to variant interpretation: principles, results, and applicability 13. Data sharing and gene variant databases 14. Holistic case-level interpretation 15. Pharmacogenomics and Personalized Medicine 16. Phenotype evaluation and clinical context: Application of case-level data in genomic variant interpretation Section II. Practical Cases 17. Hereditary Cancer 18. Inherited Heart Diseases 19. Epilepsy 20. Phenylketonuria 21. Hearing loss 22. Familial hypercholesterolemia 23. RASopathies 24. Summary

Reviews

Author Information

Conxi Lazaro PhD, Head of the Molecular Diagnostic Unit, Hereditary Cancer Program. Catalan Institute of Oncology. Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL. Centro de Investigacion Biomedica en Red de Cancer (CIBERONC). Hospitalet de Llobregat, Barcelona, Spain Jordan Lerner-Ellis FACMG is an Associate Professor at Mount Sinai Hospital in Toronto, Canada. Amanda Spurdle is an Associate Professor and Group Leader in Molecular Cancer Epidemiology at QIMR Berghofer Medical Research Institute, Australia. George Patrinos is Professor of Pharmacogenomics at the University of Patras School of Health Sciences (Department of Pharmacy) in Patras, Greece with Adjunct positions in Rotterdam, the Netherlands and Al-Ain, United Arab Emirates. His research interests span the fields of pharmacogenomics and personalised medicine, focused on psychiatric diseases and hemoglobinopathies, the implementation of genomics into healthcare, particularly for health systems in developing countries, the development of genomic databases and web-based translational tools for personalised medicine and the application of genomics in public health. George Patrinos has published more than 220 scientific papers in peer reviewed journals on topics related to genetics, genomic medicine, pharmacogenomics, molecular diagnostics, and social and economic evaluation for genomic medicine. He is also the editor of several textbooks published by Elsevier/Academic Press, including the renowned textbook Molecular Diagnostics , published by Elsevier now in its third edition. He serves as Communicating and Associate Editor for several high impact scientific journals and he is co-organizer of the international meeting series Golden Helix Conferences .

Tab Content 6

Author Website:  

Customer Reviews

Recent Reviews

No review item found!

Add your own review!

Countries Available

All regions