Clinical DNA Variant Interpretation: Theory and Practice

Clinical DNA Variant Interpretation: Theory and Practice is a comprehensive book that covers foundational aspects, modes of analysis, technology, disease and disorder-specific case studies, and clinical integration. It provides a deep theoretical background and practical chapters on genomic variant interpretation, terminology, nomenclature, international consensus guidelines, population allele frequency, functional evidence, and more, enabling researchers, clinicians, and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes.

\n Format: Paperback / softback
\n Length: 436 pages
\n Publication date: 02 March 2021
\n Publisher: Elsevier Science Publishing Co Inc
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Clinical DNA Variant Interpretation: Theory and Practice, a groundbreaking addition to the Translational and Applied Genomics series, delves into comprehensive coverage of foundational elements, analytical approaches, technological advancements, disease-specific case studies, and clinical integration. This invaluable resource offers a profound theoretical foundation, complemented by practical case studies and methodology, empowering researchers, clinicians, and healthcare professionals to accurately classify DNA variants linked to disease and patient phenotypes. In-depth chapters explore genomic variant interpretation, terminology, nomenclature, international consensus guidelines, population allele frequency, functional evidence for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and a wide range of other critical topics. By providing a holistic understanding of these domains, this book equips readers with the skills and knowledge necessary to navigate the complexities of DNA variant interpretation, ultimately advancing precision medicine and improving patient outcomes.

\n Weight: 894g\n
Dimension: 193 x 236 x 27 (mm)\n
ISBN-13: 9780128205198\n \n