Clinical DNA Variant Interpretation: Theory and Practice (Paperback) (ISBN-13: 9780128205198)

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.

Author: Conxi Lázaro
ISBN-10: 0128205199
ISBN-13: 9780128205198
Publisher: Academic Press
Language: English
Published: 03/02/2021
Pages: 436
Format: Paperback