{"product_id":"clinical-dna-variant-interpretation-theory-and-practice-paperback-9780128205198","title":"Clinical DNA Variant Interpretation; Theory and Practice (Paperback) 9780128205198","description":"\u003cfont face=\"Georgia\"\u003e\r\n\u003cp\u003e\u003cfont size=\"6\"\u003eClinical DNA Variant Interpretation\u003c\/font\u003e\u003cbr\u003e\r\n\u003cfont size=\"5\"\u003eTheory and Practice\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cem\u003eCompiles DNA variant interpretation foundations and best practices, covering theory, modes of analysis, technology, disease and disorder applications\u003c\/em\u003e\u003c\/p\u003e\r\n\r\n\r\n\u003cp\u003e\u003cfont size=\"4\"\u003eConxi Lázaro (Edited by), Jordan Lerner-Ellis (Edited by), Amanda Spurdle (Edited by), George P. Patrinos (Series edited by)\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e9780128205198, Elsevier Science\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003ePaperback, published 2 March 2021\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e436 pages, 180 illustrations (50 in full color)\u003cbr\u003e23.4 x 19 x 2.7 cm, 0.93 kg\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\r\n\r\n\r\n\r\n\u003cp align=\"justify\"\u003e\u003cstrong\u003e\u003cfont size=\"3\"\u003e\u003ci\u003eClinical DNA Variant Interpretation: Theory and Practice\u003c\/i\u003e, 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.\u003c\/font\u003e\u003c\/strong\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e\u003cp\u003e1. Introduction: The challenge of genomic DNA interpretation \u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection I. Theoretical Chapters\u003c\/b\u003e 2. General considerations: Terminology and standards 3. International consensus guidelines for constitutional sequence variant interpretation 4. Quantitative modelling: Multifactorial integration of data  5. Clinical and genetic evidence and population evidence 6. The computational approach to variant interpretation: principles, results, and applicability 7. Functional evidence (I) transcripts and RNA splicing outline 8. Functional evidence (II) protein and enzyme function  9. Somatic data usage for classification of germline variants  10. Pharmacogenomics and personalized medicine 11. Data sharing and gene variant databases 12. Approaches to the comprehensive interpretation of genome-scale sequencing 13. Phenotype evaluation and clinical context: Application of case-level data in genomic variant interpretation \u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection II. Practical Chapters\u003c\/b\u003e 14. Inherited cardiomyopathies 15. Phenylketonuria 16. Hearing loss 17. Familial hypercholesterolemia 18. Classification of genetic variants in hereditary cancer genes 19. RASopathies  20. Summary and conclusions\u003c\/p\u003e\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003eSubject Areas: DNA \u0026amp; Genome [\u003ca title=\"See our other books on DNA \u0026amp; Genome\" href=\"https:\/\/freshlyprintedbooks.co.uk\/search?q=%22DNA%20\u0026amp;%20Genome%20%5BPSAK1%5D%22\"\u003ePSAK1\u003c\/a\u003e], Genetics [\u003ca title=\"See our other books on Genetics\" href=\"https:\/\/freshlyprintedbooks.co.uk\/search?q=%22Genetics%20%5Bnon-medical%5D%20%5BPSAK%5D%22\"\u003enon-medical PSAK\u003c\/a\u003e]\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\r\n\u003c\/font\u003e","brand":"Academic Press","offers":[{"title":"Default Title","offer_id":46648550293784,"sku":"9780128205198","price":102.99,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0730\/2037\/5320\/products\/9780128205198.jpg?v=1694092240","url":"https:\/\/freshlyprintedbooks.co.uk\/products\/clinical-dna-variant-interpretation-theory-and-practice-paperback-9780128205198","provider":"Freshly Printed Books","version":"1.0","type":"link"}