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Clinical DNA Variant Interpretation - Theory and Practice (Paperback)
Loot Price: R3,653
Discovery Miles 36 530
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Clinical DNA Variant Interpretation - Theory and Practice (Paperback)
Series: Translational and Applied Genomics
Expected to ship within 12 - 17 working days
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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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