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Clinical DNA variant interpretation
Paperback
€195.75
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- Book 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.
- Product Details
-
- ISBN
- 9780128205198
- Format
- Paperback
- Publisher
- Academic Press, (02 March 2021)
- Number of Pages
- 464
- Weight
- 930 grams
- Language
- English
- Dimensions
- 193 x 236 x 27 mm
- Series:
- See all books in this series
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