Clinical DNA Variant Interpretation is popular PDF and ePub book, written by Conxi Lázaro in 2021-02-27, it is a fantastic choice for those who relish reading online the Medical genre. Let's immerse ourselves in this engaging Medical book by exploring the summary and details provided below. Remember, Clinical DNA Variant Interpretation can be Read Online from any device for your convenience.
Clinical DNA Variant Interpretation Book PDF Summary
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. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes
Detail Book of Clinical DNA Variant Interpretation PDF
- Author : Conxi Lázaro
- Release : 27 February 2021
- Publisher : Academic Press
- ISBN : 9780128205204
- Genre : Medical
- Total Page : 436 pages
- Language : English
- PDF File Size : 16,7 Mb
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