دانلود کتاب Clinical DNA Variant Interpretation: Theory and Practice

Name: Clinical DNA Variant Interpretation: Theory and Practice
Availability: InStock
Author: Conxi Lázaro
ISBN: 0128205199,9780128205198

by Conxi Lázaro, Jordan Lerner-Ellis, Amanda Spurdle

عنوان فارسی: تفسیر متفاوت DNA بالینی: نظریه و عمل
ناشر: Academic Press
سال: 2021
زبان: انگلیسی
تعداد صفحه (نسخه چاپی - نسخه الکترونیکی): 436-411
شابک: 0128205199,9780128205198
نوع فایل: PDF دانلود نرم افزار مطالعه
حجم: 16.76 مگابایت

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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.