Clinical DNA Variant Interpretation - Humanitas

Clinical DNA Variant Interpretation

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ISBN: 9780128205198
Leidimo metai: 2021
Leidėjas: Academic Press
Leidinio kalba: Anglų
Formatas: Minkšti viršeliai
Formatas: 9.25×7.5
Aprašymas
<i>Clinical DNA Variant Interpretation: Theory and Practice</i>, 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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