Clinical DNA Variant Interpretation : Theory and Practice
Book Details
Format
Paperback / Softback
Book Series
Translational and Applied Genomics
ISBN-10
0128205199
ISBN-13
9780128205198
Publisher
Elsevier Science Publishing Co Inc
Imprint
Academic Press Inc
Country of Manufacture
NL
Country of Publication
GB
Publication Date
Mar 2nd, 2021
Print length
436 Pages
Weight
880 grams
Dimensions
19.30 x 23.60 x 2.70 cms
Product Classification:
Genetics (non-medical)DNA & Genome
Ksh 24,300.00
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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.
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