-------如果这里没有任何信息，不是真没有，是我们懒！请复制书名上amazon搜索书籍信息。-------
by Conxi Lázaro (Editor), Jordan Lerner-Ellis (Editor), Amanda Spurdle (Editor), George P. Patrinos(Series Editor)&1moreClinical 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.Product DetailsPublisher:Academic Press; 1st edition (March 16, 2021)Language:EnglishPaperback:436 pagesISBN-10:0128205199ISBN-13:978-0128205198ISBN-13:9780128205198eText ISBN: 9780128205204Item Weight:15.9 ouncesDimensions:7.5 x 9.25 inches
