Clinical DNA Variant Interpretation: Theory and Practice

(Translational and Applied Genomics) 1st Edition

by Conxi Lázaro (Editor), Jordan Lerner-Ellis (Editor), Amanda Spurdle (Editor), George P. Patrinos (Series Editor)

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.