Clinical DNA Variant Interpretation

This PDF book is become immediate popular in Medical genre. Clinical DNA Variant Interpretation is written by famous author Conxi Lázaro and Ready to Download in ePUB, PDF or Kindle formats. Released by Academic Press in 2021-02-27. Click Download Book button to get book file and read directly from your devices. Here is a quick description and cover image of Clinical DNA Variant Interpretation book.

Clinical DNA Variant Interpretation
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Publisher : Academic Press
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ISBN : 9780128205204
Pages : 436 pages
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Clinical DNA Variant Interpretation by Conxi Lázaro 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


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