Book Detail
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Medicine > Genetics
Clinical DNA Variant Interpretation: Theory and Practice
Lazaro, Conxi
ISBN 13: 
9780128205198
ISBN 10: 
0128205199
Category: 
Genetics
Edition: 
1
Publisher: 
Elsevier
Publication Date: 
12/2020
Format: 
Paperback
Status: 
Not Yet Published
Imprint: 
Academic Press
Audience: 
Professional and scholarly
Pages: 
464
Weight: 
2
Retail Price: 
175.00 (Tentative Price May Change)
Quantity On Hand: 
0
Quantity On Order: 
0
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Synopsis:
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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