Clinical DNA Variant Interpretation

Theory and Practice

Conxi Lázaro, Jordan Lerner-Ellis, Amanda Spurdle, George Patrinos
Elsevier S&T
436 pages
ISBN: 978-0128205198
March 2021

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, 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.