Description
| Product ID: | 9780128205198 |
| Product Form: | Paperback / softback |
| Country of Manufacture: | NL |
| Series: | Translational and Applied Genomics |
| Title: | Clinical DNA Variant Interpretation |
| Subtitle: | Theory and Practice |
| Authors: | Author: Amanda Spurdle, George P. Patrinos, Jordan Lerner-Ellis, Conxi Lazaro |
| Page Count: | 436 |
| Subjects: | Genetics (non-medical), Genetics (non-medical), Genetics (non-medical), DNA & Genome |
| Description: | Select Guide Rating 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. |
| Imprint Name: | Academic Press Inc |
| Publisher Name: | Elsevier Science Publishing Co Inc |
| Country of Publication: | GB |
| Publishing Date: | 2021-03-02 |
