Clinical DNA Variant Interpretation: Theory and Practice (Translational and Applied Genomics)

Author: Lázaro, Conxi

Brand: Academic Press

Edition: 1

ISBN: 9780128205198

Release Date: 01-03-2021

Package Dimensions: 9.2 x 7.5 x 1.0 inches

Languages: English

Binding: Paperback

Number Of Pages: 436

Details: 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