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Clinical DNA Variant Interpretation - 1st Edition - ISBN: 9780128205198

Clinical DNA Variant Interpretation

1st Edition

Theory and Practice

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Editors: Conxi Lázaro Jordan Lerner-Ellis Amanda Spurdle
Series Editor: George P. Patrinos
Paperback ISBN: 9780128205198
Imprint: Academic Press
Published Date: 1st March 2021
Page Count: 464
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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 Cardiomyopathies
19. Phenylketonuria
20. Hearing loss
21. Familial hypercholesterolemia
22. RASopathies
23. 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, 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.

Key Features

  • 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


Active researchers, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, psychiatry, neurology,  immunology, embryology, endocrinology, bioinformatics, prenatal testing, psychology, psychiatry, and genetic testing; genetic counselors; bioethicists; fertility specialists; hospital administrators


No. of pages:
© Academic Press 2021
1st March 2021
Academic Press
Paperback ISBN:

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About the Editors

Conxi Lázaro

Conxi Lázaro 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 Investigación Biomédica en Red de Cáncer (CIBERONC). Hospitalet de Llobregat, Barcelona, Spain

Affiliations and Expertise

Head of the Molecular Diagnostic Unit, Hereditary Cancer Program, Barcelona, Spain

Jordan Lerner-Ellis

Jordan Lerner-Ellis FACMG is an Associate Professor at Mount Sinai Hospital in Toronto, Canada.

Affiliations and Expertise

Associate Professor, Mount Sinai Hospital, Toronto, Canada

Amanda Spurdle

Amanda Spurdle is an Associate Professor and Group Leader in Molecular Cancer Epidemiology at QIMR Berghofer Medical Research Institute, Australia.

Affiliations and Expertise

Associate Professor and Group Leader, Molecular Cancer Epidemiology, QIMR Berghofer Medical Research Institute, Australia

About the Series Editor

George P. Patrinos

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”.

Affiliations and Expertise

Department of Pharmacy, University of Patras School of Health Sciences, Patras, Greece; United Arab Emirates University, College of Medicine and Health Sciences, Department of Pathology, Al-Ain, UAE and Erasmus University Medical Center, School of Medicine and Health Sciences, Department of Pathology – Bioinformatics Unit, Rotterdam, The Netherlands