Clinical DNA Variant Interpretation : Theory and Practice Paperback / softback
Edited by Conxi (Head of the Molecular Diagnostic Unit, Hereditary Cancer Program, Barcelona, Spain) Lazaro, Jordan (Associate Professor, Laboratory Medicine & Pathobiology, University of Toronto Lerner-Ellis, Amanda (Associate Professor and Group Leader, Molecular Cancer Epidemiology, QIMR Berghofer Spurdle
Part of the Translational and Applied Genomics series
Paperback / softback
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.
Information
-
Less than 10 available - usually despatched within 24 hours
- Format:Paperback / softback
- Pages:436 pages
- Publisher:Elsevier Science Publishing Co Inc
- Publication Date:02/03/2021
- Category:
- ISBN:9780128205198
Information
-
Less than 10 available - usually despatched within 24 hours
- Format:Paperback / softback
- Pages:436 pages
- Publisher:Elsevier Science Publishing Co Inc
- Publication Date:02/03/2021
- Category:
- ISBN:9780128205198
